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Items: 1 to 20 of 460

1.

rs1490199108 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    3:126012720 (GRCh38)
    3:125731563 (GRCh37)
    Canonical SPDI:
    NC_000003.12:126012719:T:A
    Gene:
    SLC41A3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0./0 (GnomAD)
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.126012720T>A, NC_000003.11:g.125731563T>A, NM_017836.4:c.1000A>T, NM_017836.3:c.1000A>T, XM_006713681.4:c.1000A>T, XM_006713681.3:c.1000A>T, XM_006713681.2:c.1000A>T, XM_006713681.1:c.1000A>T, XM_005247565.3:c.922A>T, XM_005247565.2:c.922A>T, XM_005247565.1:c.922A>T, XM_005247563.3:c.1000A>T, XM_005247563.2:c.1000A>T, XM_005247563.1:c.1000A>T, NM_001008487.2:c.922A>T, NM_001008487.1:c.922A>T, XM_017006706.2:c.1000A>T, XM_017006706.1:c.1000A>T, XM_017006707.2:c.1000A>T, XM_017006707.1:c.1000A>T, XM_024453609.2:c.1000A>T, XM_024453609.1:c.1000A>T, XM_011512945.2:c.967A>T, XM_011512945.1:c.967A>T, NM_001164475.2:c.649A>T, NM_001164475.1:c.649A>T, XM_017006705.2:c.1045A>T, XM_017006705.1:c.1045A>T, NM_001008485.2:c.1000A>T, NM_001008485.1:c.1000A>T, NM_001008486.2:c.892A>T, NM_001008486.1:c.892A>T, XM_047448408.1:c.967A>T, XM_047448407.1:c.1045A>T, XM_047448406.1:c.1045A>T, XM_005247564.1:c.1045A>T, XM_047448412.1:c.805A>T, XM_017006709.1:c.892A>T, XM_047448409.1:c.892A>T, XM_017006708.1:c.892A>T, XM_047448404.1:c.1045A>T, XM_047448405.1:c.1045A>T, XM_047448411.1:c.805A>T, XM_005247562.1:c.1000A>T, XM_005247559.1:c.1045A>T, XM_024453610.1:c.892A>T, NP_060306.4:p.Thr334Ser, XP_006713744.1:p.Thr334Ser, XP_005247622.1:p.Thr308Ser, XP_005247620.1:p.Thr334Ser, NP_001008487.1:p.Thr308Ser, XP_016862195.1:p.Thr334Ser, XP_016862196.1:p.Thr334Ser, XP_024309377.1:p.Thr334Ser, XP_011511247.1:p.Thr323Ser, NP_001157947.1:p.Thr217Ser, XP_016862194.1:p.Thr349Ser, NP_001008485.2:p.Thr334Ser, NP_001008486.2:p.Thr298Ser, XP_047304364.1:p.Thr323Ser, XP_047304363.1:p.Thr349Ser, XP_047304362.1:p.Thr349Ser, XP_005247621.1:p.Thr349Ser, XP_047304368.1:p.Thr269Ser, XP_016862198.1:p.Thr298Ser, XP_047304365.1:p.Thr298Ser, XP_016862197.1:p.Thr298Ser, XP_047304360.1:p.Thr349Ser, XP_047304361.1:p.Thr349Ser, XP_047304367.1:p.Thr269Ser, XP_005247619.1:p.Thr334Ser, XP_005247616.1:p.Thr349Ser, XP_024309378.1:p.Thr298Ser

    2.

    rs1487368387 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      3:126022818 (GRCh38)
      3:125741661 (GRCh37)
      Canonical SPDI:
      NC_000003.12:126022817:G:A,NC_000003.12:126022817:G:T
      Gene:
      SLC41A3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000003.12:g.126022818G>A, NC_000003.12:g.126022818G>T, NC_000003.11:g.125741661G>A, NC_000003.11:g.125741661G>T, NM_017836.4:c.713C>T, NM_017836.4:c.713C>A, NM_017836.3:c.713C>T, NM_017836.3:c.713C>A, XM_006713681.4:c.713C>T, XM_006713681.4:c.713C>A, XM_006713681.3:c.713C>T, XM_006713681.3:c.713C>A, XM_006713681.2:c.713C>T, XM_006713681.2:c.713C>A, XM_006713681.1:c.713C>T, XM_006713681.1:c.713C>A, XM_005247565.3:c.635C>T, XM_005247565.3:c.635C>A, XM_005247565.2:c.635C>T, XM_005247565.2:c.635C>A, XM_005247565.1:c.635C>T, XM_005247565.1:c.635C>A, XM_005247563.3:c.713C>T, XM_005247563.3:c.713C>A, XM_005247563.2:c.713C>T, XM_005247563.2:c.713C>A, XM_005247563.1:c.713C>T, XM_005247563.1:c.713C>A, NM_001008487.2:c.635C>T, NM_001008487.2:c.635C>A, NM_001008487.1:c.635C>T, NM_001008487.1:c.635C>A, XM_017006706.2:c.713C>T, XM_017006706.2:c.713C>A, XM_017006706.1:c.713C>T, XM_017006706.1:c.713C>A, XM_017006707.2:c.713C>T, XM_017006707.2:c.713C>A, XM_017006707.1:c.713C>T, XM_017006707.1:c.713C>A, XM_024453609.2:c.713C>T, XM_024453609.2:c.713C>A, XM_024453609.1:c.713C>T, XM_024453609.1:c.713C>A, XM_011512945.2:c.680C>T, XM_011512945.2:c.680C>A, XM_011512945.1:c.680C>T, XM_011512945.1:c.680C>A, NM_001164475.2:c.362C>T, NM_001164475.2:c.362C>A, NM_001164475.1:c.362C>T, NM_001164475.1:c.362C>A, XM_017006705.2:c.758C>T, XM_017006705.2:c.758C>A, XM_017006705.1:c.758C>T, XM_017006705.1:c.758C>A, NM_001008485.2:c.713C>T, NM_001008485.2:c.713C>A, NM_001008485.1:c.713C>T, NM_001008485.1:c.713C>A, NM_001008486.2:c.605C>T, NM_001008486.2:c.605C>A, NM_001008486.1:c.605C>T, NM_001008486.1:c.605C>A, XM_047448408.1:c.680C>T, XM_047448408.1:c.680C>A, XM_047448407.1:c.758C>T, XM_047448407.1:c.758C>A, XM_047448406.1:c.758C>T, XM_047448406.1:c.758C>A, XM_005247564.1:c.758C>T, XM_005247564.1:c.758C>A, XM_047448412.1:c.518C>T, XM_047448412.1:c.518C>A, XM_017006709.1:c.605C>T, XM_017006709.1:c.605C>A, XM_047448409.1:c.605C>T, XM_047448409.1:c.605C>A, XM_017006708.1:c.605C>T, XM_017006708.1:c.605C>A, XM_047448404.1:c.758C>T, XM_047448404.1:c.758C>A, XM_047448405.1:c.758C>T, XM_047448405.1:c.758C>A, XM_047448411.1:c.518C>T, XM_047448411.1:c.518C>A, XM_005247562.1:c.713C>T, XM_005247562.1:c.713C>A, XM_005247559.1:c.758C>T, XM_005247559.1:c.758C>A, XM_024453610.1:c.605C>T, XM_024453610.1:c.605C>A, NP_060306.4:p.Ala238Val, NP_060306.4:p.Ala238Asp, XP_006713744.1:p.Ala238Val, XP_006713744.1:p.Ala238Asp, XP_005247622.1:p.Ala212Val, XP_005247622.1:p.Ala212Asp, XP_005247620.1:p.Ala238Val, XP_005247620.1:p.Ala238Asp, NP_001008487.1:p.Ala212Val, NP_001008487.1:p.Ala212Asp, XP_016862195.1:p.Ala238Val, XP_016862195.1:p.Ala238Asp, XP_016862196.1:p.Ala238Val, XP_016862196.1:p.Ala238Asp, XP_024309377.1:p.Ala238Val, XP_024309377.1:p.Ala238Asp, XP_011511247.1:p.Ala227Val, XP_011511247.1:p.Ala227Asp, NP_001157947.1:p.Ala121Val, NP_001157947.1:p.Ala121Asp, XP_016862194.1:p.Ala253Val, XP_016862194.1:p.Ala253Asp, NP_001008485.2:p.Ala238Val, NP_001008485.2:p.Ala238Asp, NP_001008486.2:p.Ala202Val, NP_001008486.2:p.Ala202Asp, XP_047304364.1:p.Ala227Val, XP_047304364.1:p.Ala227Asp, XP_047304363.1:p.Ala253Val, XP_047304363.1:p.Ala253Asp, XP_047304362.1:p.Ala253Val, XP_047304362.1:p.Ala253Asp, XP_005247621.1:p.Ala253Val, XP_005247621.1:p.Ala253Asp, XP_047304368.1:p.Ala173Val, XP_047304368.1:p.Ala173Asp, XP_016862198.1:p.Ala202Val, XP_016862198.1:p.Ala202Asp, XP_047304365.1:p.Ala202Val, XP_047304365.1:p.Ala202Asp, XP_016862197.1:p.Ala202Val, XP_016862197.1:p.Ala202Asp, XP_047304360.1:p.Ala253Val, XP_047304360.1:p.Ala253Asp, XP_047304361.1:p.Ala253Val, XP_047304361.1:p.Ala253Asp, XP_047304367.1:p.Ala173Val, XP_047304367.1:p.Ala173Asp, XP_005247619.1:p.Ala238Val, XP_005247619.1:p.Ala238Asp, XP_005247616.1:p.Ala253Val, XP_005247616.1:p.Ala253Asp, XP_024309378.1:p.Ala202Val, XP_024309378.1:p.Ala202Asp

      3.

      rs1487027614 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        3:126016843 (GRCh38)
        3:125735686 (GRCh37)
        Canonical SPDI:
        NC_000003.12:126016842:T:C
        Gene:
        SLC41A3 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000224/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000223/1 (Estonian)
        HGVS:
        NC_000003.12:g.126016843T>C, NC_000003.11:g.125735686T>C, NM_017836.4:c.778A>G, NM_017836.3:c.778A>G, XM_006713681.4:c.778A>G, XM_006713681.3:c.778A>G, XM_006713681.2:c.778A>G, XM_006713681.1:c.778A>G, XM_005247565.3:c.700A>G, XM_005247565.2:c.700A>G, XM_005247565.1:c.700A>G, XM_005247563.3:c.778A>G, XM_005247563.2:c.778A>G, XM_005247563.1:c.778A>G, NM_001008487.2:c.700A>G, NM_001008487.1:c.700A>G, XM_017006706.2:c.778A>G, XM_017006706.1:c.778A>G, XM_017006707.2:c.778A>G, XM_017006707.1:c.778A>G, XM_024453609.2:c.778A>G, XM_024453609.1:c.778A>G, XM_011512945.2:c.745A>G, XM_011512945.1:c.745A>G, NM_001164475.2:c.427A>G, NM_001164475.1:c.427A>G, XM_017006705.2:c.823A>G, XM_017006705.1:c.823A>G, NM_001008485.2:c.778A>G, NM_001008485.1:c.778A>G, NM_001008486.2:c.670A>G, NM_001008486.1:c.670A>G, XM_047448408.1:c.745A>G, XM_047448407.1:c.823A>G, XM_047448406.1:c.823A>G, XM_005247564.1:c.823A>G, XM_047448412.1:c.583A>G, XM_017006709.1:c.670A>G, XM_047448409.1:c.670A>G, XM_017006708.1:c.670A>G, XM_047448404.1:c.823A>G, XM_047448405.1:c.823A>G, XM_047448411.1:c.583A>G, XM_005247562.1:c.778A>G, XM_005247559.1:c.823A>G, XM_024453610.1:c.670A>G, NP_060306.4:p.Ser260Gly, XP_006713744.1:p.Ser260Gly, XP_005247622.1:p.Ser234Gly, XP_005247620.1:p.Ser260Gly, NP_001008487.1:p.Ser234Gly, XP_016862195.1:p.Ser260Gly, XP_016862196.1:p.Ser260Gly, XP_024309377.1:p.Ser260Gly, XP_011511247.1:p.Ser249Gly, NP_001157947.1:p.Ser143Gly, XP_016862194.1:p.Ser275Gly, NP_001008485.2:p.Ser260Gly, NP_001008486.2:p.Ser224Gly, XP_047304364.1:p.Ser249Gly, XP_047304363.1:p.Ser275Gly, XP_047304362.1:p.Ser275Gly, XP_005247621.1:p.Ser275Gly, XP_047304368.1:p.Ser195Gly, XP_016862198.1:p.Ser224Gly, XP_047304365.1:p.Ser224Gly, XP_016862197.1:p.Ser224Gly, XP_047304360.1:p.Ser275Gly, XP_047304361.1:p.Ser275Gly, XP_047304367.1:p.Ser195Gly, XP_005247619.1:p.Ser260Gly, XP_005247616.1:p.Ser275Gly, XP_024309378.1:p.Ser224Gly

        4.

        rs1485900075 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          3:126068086 (GRCh38)
          3:125786929 (GRCh37)
          Canonical SPDI:
          NC_000003.12:126068085:C:G
          Gene:
          SLC41A3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.126068086C>G, NC_000003.11:g.125786929C>G, NM_017836.4:c.134G>C, NM_017836.3:c.134G>C, XM_006713681.4:c.134G>C, XM_006713681.3:c.134G>C, XM_006713681.2:c.134G>C, XM_006713681.1:c.134G>C, XM_005247563.3:c.134G>C, XM_005247563.2:c.134G>C, XM_005247563.1:c.134G>C, XM_017006706.2:c.134G>C, XM_017006706.1:c.134G>C, XM_017006707.2:c.134G>C, XM_017006707.1:c.134G>C, XM_024453609.2:c.134G>C, XM_024453609.1:c.134G>C, XM_017006705.2:c.134G>C, XM_017006705.1:c.134G>C, NM_001008485.2:c.134G>C, NM_001008485.1:c.134G>C, NM_001008486.2:c.134G>C, NM_001008486.1:c.134G>C, XM_047448407.1:c.134G>C, XM_047448406.1:c.134G>C, XM_005247564.1:c.134G>C, XM_017006709.1:c.134G>C, XM_047448409.1:c.134G>C, XM_017006708.1:c.134G>C, XM_047448404.1:c.134G>C, XM_047448405.1:c.134G>C, XM_005247562.1:c.134G>C, XM_005247559.1:c.134G>C, XM_024453610.1:c.134G>C, NP_060306.4:p.Ser45Thr, XP_006713744.1:p.Ser45Thr, XP_005247620.1:p.Ser45Thr, XP_016862195.1:p.Ser45Thr, XP_016862196.1:p.Ser45Thr, XP_024309377.1:p.Ser45Thr, XP_016862194.1:p.Ser45Thr, NP_001008485.2:p.Ser45Thr, NP_001008486.2:p.Ser45Thr, XP_047304363.1:p.Ser45Thr, XP_047304362.1:p.Ser45Thr, XP_005247621.1:p.Ser45Thr, XP_016862198.1:p.Ser45Thr, XP_047304365.1:p.Ser45Thr, XP_016862197.1:p.Ser45Thr, XP_047304360.1:p.Ser45Thr, XP_047304361.1:p.Ser45Thr, XP_005247619.1:p.Ser45Thr, XP_005247616.1:p.Ser45Thr, XP_024309378.1:p.Ser45Thr

          5.

          rs1485326722 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            3:126068157 (GRCh38)
            3:125787000 (GRCh37)
            Canonical SPDI:
            NC_000003.12:126068156:C:T
            Gene:
            SLC41A3 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.126068157C>T, NC_000003.11:g.125787000C>T, NM_017836.4:c.63G>A, NM_017836.3:c.63G>A, XM_006713681.4:c.63G>A, XM_006713681.3:c.63G>A, XM_006713681.2:c.63G>A, XM_006713681.1:c.63G>A, XM_005247563.3:c.63G>A, XM_005247563.2:c.63G>A, XM_005247563.1:c.63G>A, XM_017006706.2:c.63G>A, XM_017006706.1:c.63G>A, XM_017006707.2:c.63G>A, XM_017006707.1:c.63G>A, XM_024453609.2:c.63G>A, XM_024453609.1:c.63G>A, XM_017006705.2:c.63G>A, XM_017006705.1:c.63G>A, NM_001008485.2:c.63G>A, NM_001008485.1:c.63G>A, NM_001008486.2:c.63G>A, NM_001008486.1:c.63G>A, XM_047448407.1:c.63G>A, XM_047448406.1:c.63G>A, XM_005247564.1:c.63G>A, XM_017006709.1:c.63G>A, XM_047448409.1:c.63G>A, XM_017006708.1:c.63G>A, XM_047448404.1:c.63G>A, XM_047448405.1:c.63G>A, XM_005247562.1:c.63G>A, XM_005247559.1:c.63G>A, XM_024453610.1:c.63G>A

            6.

            rs1480320874 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              3:126022859 (GRCh38)
              3:125741702 (GRCh37)
              Canonical SPDI:
              NC_000003.12:126022858:A:C
              Gene:
              SLC41A3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by cluster
              MAF:
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000003.12:g.126022859A>C, NC_000003.11:g.125741702A>C, NM_017836.4:c.672T>G, NM_017836.3:c.672T>G, XM_006713681.4:c.672T>G, XM_006713681.3:c.672T>G, XM_006713681.2:c.672T>G, XM_006713681.1:c.672T>G, XM_005247565.3:c.594T>G, XM_005247565.2:c.594T>G, XM_005247565.1:c.594T>G, XM_005247563.3:c.672T>G, XM_005247563.2:c.672T>G, XM_005247563.1:c.672T>G, NM_001008487.2:c.594T>G, NM_001008487.1:c.594T>G, XM_017006706.2:c.672T>G, XM_017006706.1:c.672T>G, XM_017006707.2:c.672T>G, XM_017006707.1:c.672T>G, XM_024453609.2:c.672T>G, XM_024453609.1:c.672T>G, XM_011512945.2:c.639T>G, XM_011512945.1:c.639T>G, NM_001164475.2:c.321T>G, NM_001164475.1:c.321T>G, XM_017006705.2:c.717T>G, XM_017006705.1:c.717T>G, NM_001008485.2:c.672T>G, NM_001008485.1:c.672T>G, NM_001008486.2:c.564T>G, NM_001008486.1:c.564T>G, XM_047448408.1:c.639T>G, XM_047448407.1:c.717T>G, XM_047448406.1:c.717T>G, XM_005247564.1:c.717T>G, XM_047448412.1:c.477T>G, XM_017006709.1:c.564T>G, XM_047448409.1:c.564T>G, XM_017006708.1:c.564T>G, XM_047448404.1:c.717T>G, XM_047448405.1:c.717T>G, XM_047448411.1:c.477T>G, XM_005247562.1:c.672T>G, XM_005247559.1:c.717T>G, XM_024453610.1:c.564T>G, NP_060306.4:p.Ile224Met, XP_006713744.1:p.Ile224Met, XP_005247622.1:p.Ile198Met, XP_005247620.1:p.Ile224Met, NP_001008487.1:p.Ile198Met, XP_016862195.1:p.Ile224Met, XP_016862196.1:p.Ile224Met, XP_024309377.1:p.Ile224Met, XP_011511247.1:p.Ile213Met, NP_001157947.1:p.Ile107Met, XP_016862194.1:p.Ile239Met, NP_001008485.2:p.Ile224Met, NP_001008486.2:p.Ile188Met, XP_047304364.1:p.Ile213Met, XP_047304363.1:p.Ile239Met, XP_047304362.1:p.Ile239Met, XP_005247621.1:p.Ile239Met, XP_047304368.1:p.Ile159Met, XP_016862198.1:p.Ile188Met, XP_047304365.1:p.Ile188Met, XP_016862197.1:p.Ile188Met, XP_047304360.1:p.Ile239Met, XP_047304361.1:p.Ile239Met, XP_047304367.1:p.Ile159Met, XP_005247619.1:p.Ile224Met, XP_005247616.1:p.Ile239Met, XP_024309378.1:p.Ile188Met

              7.

              rs1476499682 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                3:126033631 (GRCh38)
                3:125752474 (GRCh37)
                Canonical SPDI:
                NC_000003.12:126033630:G:T
                Gene:
                SLC41A3 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000047/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000003.12:g.126033631G>T, NC_000003.11:g.125752474G>T, NM_017836.4:c.429C>A, NM_017836.3:c.429C>A, XM_006713681.4:c.429C>A, XM_006713681.3:c.429C>A, XM_006713681.2:c.429C>A, XM_006713681.1:c.429C>A, XM_005247565.3:c.351C>A, XM_005247565.2:c.351C>A, XM_005247565.1:c.351C>A, XM_005247563.3:c.429C>A, XM_005247563.2:c.429C>A, XM_005247563.1:c.429C>A, NM_001008487.2:c.351C>A, NM_001008487.1:c.351C>A, XM_017006706.2:c.429C>A, XM_017006706.1:c.429C>A, XM_017006707.2:c.429C>A, XM_017006707.1:c.429C>A, XM_024453609.2:c.429C>A, XM_024453609.1:c.429C>A, XM_011512945.2:c.396C>A, XM_011512945.1:c.396C>A, NM_001164475.2:c.78C>A, NM_001164475.1:c.78C>A, XM_017006705.2:c.474C>A, XM_017006705.1:c.474C>A, NM_001008485.2:c.429C>A, NM_001008485.1:c.429C>A, NM_001008486.2:c.321C>A, NM_001008486.1:c.321C>A, XM_047448408.1:c.396C>A, XM_047448407.1:c.474C>A, XM_047448406.1:c.474C>A, XM_005247564.1:c.474C>A, XM_047448412.1:c.234C>A, XM_017006709.1:c.321C>A, XM_047448409.1:c.321C>A, XM_017006708.1:c.321C>A, XM_047448404.1:c.474C>A, XM_047448405.1:c.474C>A, XM_047448411.1:c.234C>A, XM_005247562.1:c.429C>A, XM_005247559.1:c.474C>A, XM_024453610.1:c.321C>A

                8.

                rs1476311967 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  3:126033645 (GRCh38)
                  3:125752488 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:126033644:G:C
                  Gene:
                  SLC41A3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  HGVS:
                  NC_000003.12:g.126033645G>C, NC_000003.11:g.125752488G>C, NM_017836.4:c.415C>G, NM_017836.3:c.415C>G, XM_006713681.4:c.415C>G, XM_006713681.3:c.415C>G, XM_006713681.2:c.415C>G, XM_006713681.1:c.415C>G, XM_005247565.3:c.337C>G, XM_005247565.2:c.337C>G, XM_005247565.1:c.337C>G, XM_005247563.3:c.415C>G, XM_005247563.2:c.415C>G, XM_005247563.1:c.415C>G, NM_001008487.2:c.337C>G, NM_001008487.1:c.337C>G, XM_017006706.2:c.415C>G, XM_017006706.1:c.415C>G, XM_017006707.2:c.415C>G, XM_017006707.1:c.415C>G, XM_024453609.2:c.415C>G, XM_024453609.1:c.415C>G, XM_011512945.2:c.382C>G, XM_011512945.1:c.382C>G, NM_001164475.2:c.64C>G, NM_001164475.1:c.64C>G, XM_017006705.2:c.460C>G, XM_017006705.1:c.460C>G, NM_001008485.2:c.415C>G, NM_001008485.1:c.415C>G, NM_001008486.2:c.307C>G, NM_001008486.1:c.307C>G, XM_047448408.1:c.382C>G, XM_047448407.1:c.460C>G, XM_047448406.1:c.460C>G, XM_005247564.1:c.460C>G, XM_047448412.1:c.220C>G, XM_017006709.1:c.307C>G, XM_047448409.1:c.307C>G, XM_017006708.1:c.307C>G, XM_047448404.1:c.460C>G, XM_047448405.1:c.460C>G, XM_047448411.1:c.220C>G, XM_005247562.1:c.415C>G, XM_005247559.1:c.460C>G, XM_024453610.1:c.307C>G, NP_060306.4:p.Gln139Glu, XP_006713744.1:p.Gln139Glu, XP_005247622.1:p.Gln113Glu, XP_005247620.1:p.Gln139Glu, NP_001008487.1:p.Gln113Glu, XP_016862195.1:p.Gln139Glu, XP_016862196.1:p.Gln139Glu, XP_024309377.1:p.Gln139Glu, XP_011511247.1:p.Gln128Glu, NP_001157947.1:p.Gln22Glu, XP_016862194.1:p.Gln154Glu, NP_001008485.2:p.Gln139Glu, NP_001008486.2:p.Gln103Glu, XP_047304364.1:p.Gln128Glu, XP_047304363.1:p.Gln154Glu, XP_047304362.1:p.Gln154Glu, XP_005247621.1:p.Gln154Glu, XP_047304368.1:p.Gln74Glu, XP_016862198.1:p.Gln103Glu, XP_047304365.1:p.Gln103Glu, XP_016862197.1:p.Gln103Glu, XP_047304360.1:p.Gln154Glu, XP_047304361.1:p.Gln154Glu, XP_047304367.1:p.Gln74Glu, XP_005247619.1:p.Gln139Glu, XP_005247616.1:p.Gln154Glu, XP_024309378.1:p.Gln103Glu

                  9.

                  rs1476311917 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    3:126026400 (GRCh38)
                    3:125745244 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:126026400::T
                    Gene:
                    SLC41A3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,frameshift_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000005/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000003.12:g.126026400_126026401insT, NC_000003.11:g.125745243_125745244insT, NM_017836.4:c.532_533insA, NM_017836.3:c.532_533insA, XM_006713681.4:c.532_533insA, XM_006713681.3:c.532_533insA, XM_006713681.2:c.532_533insA, XM_006713681.1:c.532_533insA, XM_005247565.3:c.454_455insA, XM_005247565.2:c.454_455insA, XM_005247565.1:c.454_455insA, XM_005247563.3:c.532_533insA, XM_005247563.2:c.532_533insA, XM_005247563.1:c.532_533insA, NM_001008487.2:c.454_455insA, NM_001008487.1:c.454_455insA, XM_017006706.2:c.532_533insA, XM_017006706.1:c.532_533insA, XM_017006707.2:c.532_533insA, XM_017006707.1:c.532_533insA, XM_024453609.2:c.532_533insA, XM_024453609.1:c.532_533insA, XM_011512945.2:c.499_500insA, XM_011512945.1:c.499_500insA, NM_001164475.2:c.181_182insA, NM_001164475.1:c.181_182insA, XM_017006705.2:c.577_578insA, XM_017006705.1:c.577_578insA, NM_001008485.2:c.532_533insA, NM_001008485.1:c.532_533insA, NM_001008486.2:c.424_425insA, NM_001008486.1:c.424_425insA, XM_047448408.1:c.499_500insA, XM_047448407.1:c.577_578insA, XM_047448406.1:c.577_578insA, XM_005247564.1:c.577_578insA, XM_047448412.1:c.337_338insA, XM_017006709.1:c.424_425insA, XM_047448409.1:c.424_425insA, XM_017006708.1:c.424_425insA, XM_047448404.1:c.577_578insA, XM_047448405.1:c.577_578insA, XM_047448411.1:c.337_338insA, XM_005247562.1:c.532_533insA, XM_005247559.1:c.577_578insA, XM_024453610.1:c.424_425insA, NP_060306.4:p.Val178fs, XP_006713744.1:p.Val178fs, XP_005247622.1:p.Val152fs, XP_005247620.1:p.Val178fs, NP_001008487.1:p.Val152fs, XP_016862195.1:p.Val178fs, XP_016862196.1:p.Val178fs, XP_024309377.1:p.Val178fs, XP_011511247.1:p.Val167fs, NP_001157947.1:p.Val61fs, XP_016862194.1:p.Val193fs, NP_001008485.2:p.Val178fs, NP_001008486.2:p.Val142fs, XP_047304364.1:p.Val167fs, XP_047304363.1:p.Val193fs, XP_047304362.1:p.Val193fs, XP_005247621.1:p.Val193fs, XP_047304368.1:p.Val113fs, XP_016862198.1:p.Val142fs, XP_047304365.1:p.Val142fs, XP_016862197.1:p.Val142fs, XP_047304360.1:p.Val193fs, XP_047304361.1:p.Val193fs, XP_047304367.1:p.Val113fs, XP_005247619.1:p.Val178fs, XP_005247616.1:p.Val193fs, XP_024309378.1:p.Val142fs

                    10.

                    rs1475524158 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      3:126026335 (GRCh38)
                      3:125745178 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:126026334:C:T
                      Gene:
                      SLC41A3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      HGVS:
                      NC_000003.12:g.126026335C>T, NC_000003.11:g.125745178C>T, NM_017836.4:c.598G>A, NM_017836.3:c.598G>A, XM_006713681.4:c.598G>A, XM_006713681.3:c.598G>A, XM_006713681.2:c.598G>A, XM_006713681.1:c.598G>A, XM_005247565.3:c.520G>A, XM_005247565.2:c.520G>A, XM_005247565.1:c.520G>A, XM_005247563.3:c.598G>A, XM_005247563.2:c.598G>A, XM_005247563.1:c.598G>A, NM_001008487.2:c.520G>A, NM_001008487.1:c.520G>A, XM_017006706.2:c.598G>A, XM_017006706.1:c.598G>A, XM_017006707.2:c.598G>A, XM_017006707.1:c.598G>A, XM_024453609.2:c.598G>A, XM_024453609.1:c.598G>A, XM_011512945.2:c.565G>A, XM_011512945.1:c.565G>A, NM_001164475.2:c.247G>A, NM_001164475.1:c.247G>A, XM_017006705.2:c.643G>A, XM_017006705.1:c.643G>A, NM_001008485.2:c.598G>A, NM_001008485.1:c.598G>A, NM_001008486.2:c.490G>A, NM_001008486.1:c.490G>A, XM_047448408.1:c.565G>A, XM_047448407.1:c.643G>A, XM_047448406.1:c.643G>A, XM_005247564.1:c.643G>A, XM_047448412.1:c.403G>A, XM_017006709.1:c.490G>A, XM_047448409.1:c.490G>A, XM_017006708.1:c.490G>A, XM_047448404.1:c.643G>A, XM_047448405.1:c.643G>A, XM_047448411.1:c.403G>A, XM_005247562.1:c.598G>A, XM_005247559.1:c.643G>A, XM_024453610.1:c.490G>A, NP_060306.4:p.Gly200Arg, XP_006713744.1:p.Gly200Arg, XP_005247622.1:p.Gly174Arg, XP_005247620.1:p.Gly200Arg, NP_001008487.1:p.Gly174Arg, XP_016862195.1:p.Gly200Arg, XP_016862196.1:p.Gly200Arg, XP_024309377.1:p.Gly200Arg, XP_011511247.1:p.Gly189Arg, NP_001157947.1:p.Gly83Arg, XP_016862194.1:p.Gly215Arg, NP_001008485.2:p.Gly200Arg, NP_001008486.2:p.Gly164Arg, XP_047304364.1:p.Gly189Arg, XP_047304363.1:p.Gly215Arg, XP_047304362.1:p.Gly215Arg, XP_005247621.1:p.Gly215Arg, XP_047304368.1:p.Gly135Arg, XP_016862198.1:p.Gly164Arg, XP_047304365.1:p.Gly164Arg, XP_016862197.1:p.Gly164Arg, XP_047304360.1:p.Gly215Arg, XP_047304361.1:p.Gly215Arg, XP_047304367.1:p.Gly135Arg, XP_005247619.1:p.Gly200Arg, XP_005247616.1:p.Gly215Arg, XP_024309378.1:p.Gly164Arg

                      11.

                      rs1474704758 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:126067995 (GRCh38)
                        3:125786838 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:126067994:A:G
                        Gene:
                        SLC41A3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.126067995A>G, NC_000003.11:g.125786838A>G, NM_017836.4:c.225T>C, NM_017836.3:c.225T>C, XM_006713681.4:c.225T>C, XM_006713681.3:c.225T>C, XM_006713681.2:c.225T>C, XM_006713681.1:c.225T>C, XM_005247563.3:c.225T>C, XM_005247563.2:c.225T>C, XM_005247563.1:c.225T>C, XM_017006706.2:c.225T>C, XM_017006706.1:c.225T>C, XM_017006707.2:c.225T>C, XM_017006707.1:c.225T>C, XM_024453609.2:c.225T>C, XM_024453609.1:c.225T>C, XM_017006705.2:c.225T>C, XM_017006705.1:c.225T>C, NM_001008485.2:c.225T>C, NM_001008485.1:c.225T>C, NM_001008486.2:c.225T>C, NM_001008486.1:c.225T>C, XM_047448407.1:c.225T>C, XM_047448406.1:c.225T>C, XM_005247564.1:c.225T>C, XM_017006709.1:c.225T>C, XM_047448409.1:c.225T>C, XM_017006708.1:c.225T>C, XM_047448404.1:c.225T>C, XM_047448405.1:c.225T>C, XM_005247562.1:c.225T>C, XM_005247559.1:c.225T>C, XM_024453610.1:c.225T>C

                        12.

                        rs1469517801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:126008788 (GRCh38)
                          3:125727631 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:126008787:A:G
                          Gene:
                          SLC41A3 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000003.12:g.126008788A>G, NC_000003.11:g.125727631A>G, NM_017836.4:c.1198T>C, NM_017836.3:c.1198T>C, XM_006713681.4:c.1198T>C, XM_006713681.3:c.1198T>C, XM_006713681.2:c.1198T>C, XM_006713681.1:c.1198T>C, XM_005247565.3:c.1120T>C, XM_005247565.2:c.1120T>C, XM_005247565.1:c.1120T>C, XM_005247563.3:c.1198T>C, XM_005247563.2:c.1198T>C, XM_005247563.1:c.1198T>C, NM_001008487.2:c.1120T>C, NM_001008487.1:c.1120T>C, XM_017006706.2:c.1198T>C, XM_017006706.1:c.1198T>C, XM_017006707.2:c.1198T>C, XM_017006707.1:c.1198T>C, XM_024453609.2:c.1198T>C, XM_024453609.1:c.1198T>C, XM_011512945.2:c.1165T>C, XM_011512945.1:c.1165T>C, NM_001164475.2:c.847T>C, NM_001164475.1:c.847T>C, XM_017006705.2:c.1243T>C, XM_017006705.1:c.1243T>C, NM_001008485.2:c.1198T>C, NM_001008485.1:c.1198T>C, NM_001008486.2:c.1090T>C, NM_001008486.1:c.1090T>C, XM_047448408.1:c.1165T>C, XM_047448407.1:c.1243T>C, XM_047448406.1:c.1243T>C, XM_005247564.1:c.1243T>C, XM_047448412.1:c.1003T>C, XM_017006709.1:c.1090T>C, XM_047448409.1:c.1090T>C, XM_017006708.1:c.1090T>C, XM_047448404.1:c.1243T>C, XM_047448405.1:c.1243T>C, XM_047448411.1:c.1003T>C, XM_005247562.1:c.1198T>C, XM_005247559.1:c.1243T>C, XM_024453610.1:c.1090T>C, NP_060306.4:p.Ser400Pro, XP_006713744.1:p.Ser400Pro, XP_005247622.1:p.Ser374Pro, XP_005247620.1:p.Ser400Pro, NP_001008487.1:p.Ser374Pro, XP_016862195.1:p.Ser400Pro, XP_016862196.1:p.Ser400Pro, XP_024309377.1:p.Ser400Pro, XP_011511247.1:p.Ser389Pro, NP_001157947.1:p.Ser283Pro, XP_016862194.1:p.Ser415Pro, NP_001008485.2:p.Ser400Pro, NP_001008486.2:p.Ser364Pro, XP_047304364.1:p.Ser389Pro, XP_047304363.1:p.Ser415Pro, XP_047304362.1:p.Ser415Pro, XP_005247621.1:p.Ser415Pro, XP_047304368.1:p.Ser335Pro, XP_016862198.1:p.Ser364Pro, XP_047304365.1:p.Ser364Pro, XP_016862197.1:p.Ser364Pro, XP_047304360.1:p.Ser415Pro, XP_047304361.1:p.Ser415Pro, XP_047304367.1:p.Ser335Pro, XP_005247619.1:p.Ser400Pro, XP_005247616.1:p.Ser415Pro, XP_024309378.1:p.Ser364Pro

                          13.

                          rs1468111251 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            3:126007222 (GRCh38)
                            3:125726065 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:126007221:T:C
                            Gene:
                            SLC41A3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.126007222T>C, NC_000003.11:g.125726065T>C, NM_017836.4:c.1258A>G, NM_017836.3:c.1258A>G, XM_006713681.4:c.1258A>G, XM_006713681.3:c.1258A>G, XM_006713681.2:c.1258A>G, XM_006713681.1:c.1258A>G, XM_005247565.3:c.1180A>G, XM_005247565.2:c.1180A>G, XM_005247565.1:c.1180A>G, XM_005247563.3:c.1258A>G, XM_005247563.2:c.1258A>G, XM_005247563.1:c.1258A>G, NM_001008487.2:c.1180A>G, NM_001008487.1:c.1180A>G, XM_017006706.2:c.1258A>G, XM_017006706.1:c.1258A>G, XM_017006707.2:c.1258A>G, XM_017006707.1:c.1258A>G, XM_024453609.2:c.1258A>G, XM_024453609.1:c.1258A>G, XM_011512945.2:c.1225A>G, XM_011512945.1:c.1225A>G, NM_001164475.2:c.907A>G, NM_001164475.1:c.907A>G, XM_017006705.2:c.1303A>G, XM_017006705.1:c.1303A>G, NM_001008485.2:c.1258A>G, NM_001008485.1:c.1258A>G, NM_001008486.2:c.1150A>G, NM_001008486.1:c.1150A>G, XM_047448408.1:c.1225A>G, XM_047448407.1:c.1303A>G, XM_047448406.1:c.1303A>G, XM_005247564.1:c.1303A>G, XM_047448412.1:c.1063A>G, XM_017006709.1:c.1150A>G, XM_047448409.1:c.1150A>G, XM_017006708.1:c.1150A>G, XM_047448404.1:c.1303A>G, XM_047448405.1:c.1303A>G, XM_047448411.1:c.1063A>G, XM_005247562.1:c.1258A>G, XM_005247559.1:c.1303A>G, XM_024453610.1:c.1150A>G, NP_060306.4:p.Thr420Ala, XP_006713744.1:p.Thr420Ala, XP_005247622.1:p.Thr394Ala, XP_005247620.1:p.Thr420Ala, NP_001008487.1:p.Thr394Ala, XP_016862195.1:p.Thr420Ala, XP_016862196.1:p.Thr420Ala, XP_024309377.1:p.Thr420Ala, XP_011511247.1:p.Thr409Ala, NP_001157947.1:p.Thr303Ala, XP_016862194.1:p.Thr435Ala, NP_001008485.2:p.Thr420Ala, NP_001008486.2:p.Thr384Ala, XP_047304364.1:p.Thr409Ala, XP_047304363.1:p.Thr435Ala, XP_047304362.1:p.Thr435Ala, XP_005247621.1:p.Thr435Ala, XP_047304368.1:p.Thr355Ala, XP_016862198.1:p.Thr384Ala, XP_047304365.1:p.Thr384Ala, XP_016862197.1:p.Thr384Ala, XP_047304360.1:p.Thr435Ala, XP_047304361.1:p.Thr435Ala, XP_047304367.1:p.Thr355Ala, XP_005247619.1:p.Thr420Ala, XP_005247616.1:p.Thr435Ala, XP_024309378.1:p.Thr384Ala

                            14.

                            rs1467056242 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              3:126015543 (GRCh38)
                              3:125734386 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:126015542:A:C
                              Gene:
                              SLC41A3 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.126015543A>C, NC_000003.11:g.125734386A>C, NM_017836.4:c.921T>G, NM_017836.3:c.921T>G, XM_006713681.4:c.921T>G, XM_006713681.3:c.921T>G, XM_006713681.2:c.921T>G, XM_006713681.1:c.921T>G, XM_005247565.3:c.843T>G, XM_005247565.2:c.843T>G, XM_005247565.1:c.843T>G, XM_005247563.3:c.921T>G, XM_005247563.2:c.921T>G, XM_005247563.1:c.921T>G, NM_001008487.2:c.843T>G, NM_001008487.1:c.843T>G, XM_017006706.2:c.921T>G, XM_017006706.1:c.921T>G, XM_017006707.2:c.921T>G, XM_017006707.1:c.921T>G, XM_024453609.2:c.921T>G, XM_024453609.1:c.921T>G, XM_011512945.2:c.888T>G, XM_011512945.1:c.888T>G, NM_001164475.2:c.570T>G, NM_001164475.1:c.570T>G, XM_017006705.2:c.966T>G, XM_017006705.1:c.966T>G, NM_001008485.2:c.921T>G, NM_001008485.1:c.921T>G, NM_001008486.2:c.813T>G, NM_001008486.1:c.813T>G, XM_047448408.1:c.888T>G, XM_047448407.1:c.966T>G, XM_047448406.1:c.966T>G, XM_005247564.1:c.966T>G, XM_047448412.1:c.726T>G, XM_017006709.1:c.813T>G, XM_047448409.1:c.813T>G, XM_017006708.1:c.813T>G, XM_047448404.1:c.966T>G, XM_047448405.1:c.966T>G, XM_047448411.1:c.726T>G, XM_005247562.1:c.921T>G, XM_005247559.1:c.966T>G, XM_024453610.1:c.813T>G

                              15.

                              rs1464411462 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                3:126033652 (GRCh38)
                                3:125752495 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:126033651:G:T
                                Gene:
                                SLC41A3 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000047/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.126033652G>T, NC_000003.11:g.125752495G>T, NM_017836.4:c.408C>A, NM_017836.3:c.408C>A, XM_006713681.4:c.408C>A, XM_006713681.3:c.408C>A, XM_006713681.2:c.408C>A, XM_006713681.1:c.408C>A, XM_005247565.3:c.330C>A, XM_005247565.2:c.330C>A, XM_005247565.1:c.330C>A, XM_005247563.3:c.408C>A, XM_005247563.2:c.408C>A, XM_005247563.1:c.408C>A, NM_001008487.2:c.330C>A, NM_001008487.1:c.330C>A, XM_017006706.2:c.408C>A, XM_017006706.1:c.408C>A, XM_017006707.2:c.408C>A, XM_017006707.1:c.408C>A, XM_024453609.2:c.408C>A, XM_024453609.1:c.408C>A, XM_011512945.2:c.375C>A, XM_011512945.1:c.375C>A, NM_001164475.2:c.57C>A, NM_001164475.1:c.57C>A, XM_017006705.2:c.453C>A, XM_017006705.1:c.453C>A, NM_001008485.2:c.408C>A, NM_001008485.1:c.408C>A, NM_001008486.2:c.300C>A, NM_001008486.1:c.300C>A, XM_047448408.1:c.375C>A, XM_047448407.1:c.453C>A, XM_047448406.1:c.453C>A, XM_005247564.1:c.453C>A, XM_047448412.1:c.213C>A, XM_017006709.1:c.300C>A, XM_047448409.1:c.300C>A, XM_017006708.1:c.300C>A, XM_047448404.1:c.453C>A, XM_047448405.1:c.453C>A, XM_047448411.1:c.213C>A, XM_005247562.1:c.408C>A, XM_005247559.1:c.453C>A, XM_024453610.1:c.300C>A

                                16.

                                rs1462194722 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  3:126012743 (GRCh38)
                                  3:125731586 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:126012742:C:A
                                  Gene:
                                  SLC41A3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000132/2 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000003.12:g.126012743C>A, NC_000003.11:g.125731586C>A, NM_017836.4:c.977G>T, NM_017836.3:c.977G>T, XM_006713681.4:c.977G>T, XM_006713681.3:c.977G>T, XM_006713681.2:c.977G>T, XM_006713681.1:c.977G>T, XM_005247565.3:c.899G>T, XM_005247565.2:c.899G>T, XM_005247565.1:c.899G>T, XM_005247563.3:c.977G>T, XM_005247563.2:c.977G>T, XM_005247563.1:c.977G>T, NM_001008487.2:c.899G>T, NM_001008487.1:c.899G>T, XM_017006706.2:c.977G>T, XM_017006706.1:c.977G>T, XM_017006707.2:c.977G>T, XM_017006707.1:c.977G>T, XM_024453609.2:c.977G>T, XM_024453609.1:c.977G>T, XM_011512945.2:c.944G>T, XM_011512945.1:c.944G>T, NM_001164475.2:c.626G>T, NM_001164475.1:c.626G>T, XM_017006705.2:c.1022G>T, XM_017006705.1:c.1022G>T, NM_001008485.2:c.977G>T, NM_001008485.1:c.977G>T, NM_001008486.2:c.869G>T, NM_001008486.1:c.869G>T, XM_047448408.1:c.944G>T, XM_047448407.1:c.1022G>T, XM_047448406.1:c.1022G>T, XM_005247564.1:c.1022G>T, XM_047448412.1:c.782G>T, XM_017006709.1:c.869G>T, XM_047448409.1:c.869G>T, XM_017006708.1:c.869G>T, XM_047448404.1:c.1022G>T, XM_047448405.1:c.1022G>T, XM_047448411.1:c.782G>T, XM_005247562.1:c.977G>T, XM_005247559.1:c.1022G>T, XM_024453610.1:c.869G>T, NP_060306.4:p.Gly326Val, XP_006713744.1:p.Gly326Val, XP_005247622.1:p.Gly300Val, XP_005247620.1:p.Gly326Val, NP_001008487.1:p.Gly300Val, XP_016862195.1:p.Gly326Val, XP_016862196.1:p.Gly326Val, XP_024309377.1:p.Gly326Val, XP_011511247.1:p.Gly315Val, NP_001157947.1:p.Gly209Val, XP_016862194.1:p.Gly341Val, NP_001008485.2:p.Gly326Val, NP_001008486.2:p.Gly290Val, XP_047304364.1:p.Gly315Val, XP_047304363.1:p.Gly341Val, XP_047304362.1:p.Gly341Val, XP_005247621.1:p.Gly341Val, XP_047304368.1:p.Gly261Val, XP_016862198.1:p.Gly290Val, XP_047304365.1:p.Gly290Val, XP_016862197.1:p.Gly290Val, XP_047304360.1:p.Gly341Val, XP_047304361.1:p.Gly341Val, XP_047304367.1:p.Gly261Val, XP_005247619.1:p.Gly326Val, XP_005247616.1:p.Gly341Val, XP_024309378.1:p.Gly290Val

                                  17.

                                  rs1460742424 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    3:126068024 (GRCh38)
                                    3:125786867 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:126068023:C:T
                                    Gene:
                                    SLC41A3 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.126068024C>T, NC_000003.11:g.125786867C>T, NM_017836.4:c.196G>A, NM_017836.3:c.196G>A, XM_006713681.4:c.196G>A, XM_006713681.3:c.196G>A, XM_006713681.2:c.196G>A, XM_006713681.1:c.196G>A, XM_005247563.3:c.196G>A, XM_005247563.2:c.196G>A, XM_005247563.1:c.196G>A, XM_017006706.2:c.196G>A, XM_017006706.1:c.196G>A, XM_017006707.2:c.196G>A, XM_017006707.1:c.196G>A, XM_024453609.2:c.196G>A, XM_024453609.1:c.196G>A, XM_017006705.2:c.196G>A, XM_017006705.1:c.196G>A, NM_001008485.2:c.196G>A, NM_001008485.1:c.196G>A, NM_001008486.2:c.196G>A, NM_001008486.1:c.196G>A, XM_047448407.1:c.196G>A, XM_047448406.1:c.196G>A, XM_005247564.1:c.196G>A, XM_017006709.1:c.196G>A, XM_047448409.1:c.196G>A, XM_017006708.1:c.196G>A, XM_047448404.1:c.196G>A, XM_047448405.1:c.196G>A, XM_005247562.1:c.196G>A, XM_005247559.1:c.196G>A, XM_024453610.1:c.196G>A, NP_060306.4:p.Gly66Ser, XP_006713744.1:p.Gly66Ser, XP_005247620.1:p.Gly66Ser, XP_016862195.1:p.Gly66Ser, XP_016862196.1:p.Gly66Ser, XP_024309377.1:p.Gly66Ser, XP_016862194.1:p.Gly66Ser, NP_001008485.2:p.Gly66Ser, NP_001008486.2:p.Gly66Ser, XP_047304363.1:p.Gly66Ser, XP_047304362.1:p.Gly66Ser, XP_005247621.1:p.Gly66Ser, XP_016862198.1:p.Gly66Ser, XP_047304365.1:p.Gly66Ser, XP_016862197.1:p.Gly66Ser, XP_047304360.1:p.Gly66Ser, XP_047304361.1:p.Gly66Ser, XP_005247619.1:p.Gly66Ser, XP_005247616.1:p.Gly66Ser, XP_024309378.1:p.Gly66Ser

                                    18.

                                    rs1459442845 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:126015512 (GRCh38)
                                      3:125734355 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:126015511:A:G
                                      Gene:
                                      SLC41A3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.126015512A>G, NC_000003.11:g.125734355A>G, NM_017836.4:c.952T>C, NM_017836.3:c.952T>C, XM_006713681.4:c.952T>C, XM_006713681.3:c.952T>C, XM_006713681.2:c.952T>C, XM_006713681.1:c.952T>C, XM_005247565.3:c.874T>C, XM_005247565.2:c.874T>C, XM_005247565.1:c.874T>C, XM_005247563.3:c.952T>C, XM_005247563.2:c.952T>C, XM_005247563.1:c.952T>C, NM_001008487.2:c.874T>C, NM_001008487.1:c.874T>C, XM_017006706.2:c.952T>C, XM_017006706.1:c.952T>C, XM_017006707.2:c.952T>C, XM_017006707.1:c.952T>C, XM_024453609.2:c.952T>C, XM_024453609.1:c.952T>C, XM_011512945.2:c.919T>C, XM_011512945.1:c.919T>C, NM_001164475.2:c.601T>C, NM_001164475.1:c.601T>C, XM_017006705.2:c.997T>C, XM_017006705.1:c.997T>C, NM_001008485.2:c.952T>C, NM_001008485.1:c.952T>C, NM_001008486.2:c.844T>C, NM_001008486.1:c.844T>C, XM_047448408.1:c.919T>C, XM_047448407.1:c.997T>C, XM_047448406.1:c.997T>C, XM_005247564.1:c.997T>C, XM_047448412.1:c.757T>C, XM_017006709.1:c.844T>C, XM_047448409.1:c.844T>C, XM_017006708.1:c.844T>C, XM_047448404.1:c.997T>C, XM_047448405.1:c.997T>C, XM_047448411.1:c.757T>C, XM_005247562.1:c.952T>C, XM_005247559.1:c.997T>C, XM_024453610.1:c.844T>C, NP_060306.4:p.Phe318Leu, XP_006713744.1:p.Phe318Leu, XP_005247622.1:p.Phe292Leu, XP_005247620.1:p.Phe318Leu, NP_001008487.1:p.Phe292Leu, XP_016862195.1:p.Phe318Leu, XP_016862196.1:p.Phe318Leu, XP_024309377.1:p.Phe318Leu, XP_011511247.1:p.Phe307Leu, NP_001157947.1:p.Phe201Leu, XP_016862194.1:p.Phe333Leu, NP_001008485.2:p.Phe318Leu, NP_001008486.2:p.Phe282Leu, XP_047304364.1:p.Phe307Leu, XP_047304363.1:p.Phe333Leu, XP_047304362.1:p.Phe333Leu, XP_005247621.1:p.Phe333Leu, XP_047304368.1:p.Phe253Leu, XP_016862198.1:p.Phe282Leu, XP_047304365.1:p.Phe282Leu, XP_016862197.1:p.Phe282Leu, XP_047304360.1:p.Phe333Leu, XP_047304361.1:p.Phe333Leu, XP_047304367.1:p.Phe253Leu, XP_005247619.1:p.Phe318Leu, XP_005247616.1:p.Phe333Leu, XP_024309378.1:p.Phe282Leu

                                      19.

                                      rs1457874688 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:126008782 (GRCh38)
                                        3:125727625 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:126008781:T:C
                                        Gene:
                                        SLC41A3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.126008782T>C, NC_000003.11:g.125727625T>C, NM_017836.4:c.1204A>G, NM_017836.3:c.1204A>G, XM_006713681.4:c.1204A>G, XM_006713681.3:c.1204A>G, XM_006713681.2:c.1204A>G, XM_006713681.1:c.1204A>G, XM_005247565.3:c.1126A>G, XM_005247565.2:c.1126A>G, XM_005247565.1:c.1126A>G, XM_005247563.3:c.1204A>G, XM_005247563.2:c.1204A>G, XM_005247563.1:c.1204A>G, NM_001008487.2:c.1126A>G, NM_001008487.1:c.1126A>G, XM_017006706.2:c.1204A>G, XM_017006706.1:c.1204A>G, XM_017006707.2:c.1204A>G, XM_017006707.1:c.1204A>G, XM_024453609.2:c.1204A>G, XM_024453609.1:c.1204A>G, XM_011512945.2:c.1171A>G, XM_011512945.1:c.1171A>G, NM_001164475.2:c.853A>G, NM_001164475.1:c.853A>G, XM_017006705.2:c.1249A>G, XM_017006705.1:c.1249A>G, NM_001008485.2:c.1204A>G, NM_001008485.1:c.1204A>G, NM_001008486.2:c.1096A>G, NM_001008486.1:c.1096A>G, XM_047448408.1:c.1171A>G, XM_047448407.1:c.1249A>G, XM_047448406.1:c.1249A>G, XM_005247564.1:c.1249A>G, XM_047448412.1:c.1009A>G, XM_017006709.1:c.1096A>G, XM_047448409.1:c.1096A>G, XM_017006708.1:c.1096A>G, XM_047448404.1:c.1249A>G, XM_047448405.1:c.1249A>G, XM_047448411.1:c.1009A>G, XM_005247562.1:c.1204A>G, XM_005247559.1:c.1249A>G, XM_024453610.1:c.1096A>G, NP_060306.4:p.Ile402Val, XP_006713744.1:p.Ile402Val, XP_005247622.1:p.Ile376Val, XP_005247620.1:p.Ile402Val, NP_001008487.1:p.Ile376Val, XP_016862195.1:p.Ile402Val, XP_016862196.1:p.Ile402Val, XP_024309377.1:p.Ile402Val, XP_011511247.1:p.Ile391Val, NP_001157947.1:p.Ile285Val, XP_016862194.1:p.Ile417Val, NP_001008485.2:p.Ile402Val, NP_001008486.2:p.Ile366Val, XP_047304364.1:p.Ile391Val, XP_047304363.1:p.Ile417Val, XP_047304362.1:p.Ile417Val, XP_005247621.1:p.Ile417Val, XP_047304368.1:p.Ile337Val, XP_016862198.1:p.Ile366Val, XP_047304365.1:p.Ile366Val, XP_016862197.1:p.Ile366Val, XP_047304360.1:p.Ile417Val, XP_047304361.1:p.Ile417Val, XP_047304367.1:p.Ile337Val, XP_005247619.1:p.Ile402Val, XP_005247616.1:p.Ile417Val, XP_024309378.1:p.Ile366Val

                                        20.

                                        rs1456608515 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:126022848 (GRCh38)
                                          3:125741691 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:126022847:A:G
                                          Gene:
                                          SLC41A3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000007/1 (GnomAD)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.126022848A>G, NC_000003.11:g.125741691A>G, NM_017836.4:c.683T>C, NM_017836.3:c.683T>C, XM_006713681.4:c.683T>C, XM_006713681.3:c.683T>C, XM_006713681.2:c.683T>C, XM_006713681.1:c.683T>C, XM_005247565.3:c.605T>C, XM_005247565.2:c.605T>C, XM_005247565.1:c.605T>C, XM_005247563.3:c.683T>C, XM_005247563.2:c.683T>C, XM_005247563.1:c.683T>C, NM_001008487.2:c.605T>C, NM_001008487.1:c.605T>C, XM_017006706.2:c.683T>C, XM_017006706.1:c.683T>C, XM_017006707.2:c.683T>C, XM_017006707.1:c.683T>C, XM_024453609.2:c.683T>C, XM_024453609.1:c.683T>C, XM_011512945.2:c.650T>C, XM_011512945.1:c.650T>C, NM_001164475.2:c.332T>C, NM_001164475.1:c.332T>C, XM_017006705.2:c.728T>C, XM_017006705.1:c.728T>C, NM_001008485.2:c.683T>C, NM_001008485.1:c.683T>C, NM_001008486.2:c.575T>C, NM_001008486.1:c.575T>C, XM_047448408.1:c.650T>C, XM_047448407.1:c.728T>C, XM_047448406.1:c.728T>C, XM_005247564.1:c.728T>C, XM_047448412.1:c.488T>C, XM_017006709.1:c.575T>C, XM_047448409.1:c.575T>C, XM_017006708.1:c.575T>C, XM_047448404.1:c.728T>C, XM_047448405.1:c.728T>C, XM_047448411.1:c.488T>C, XM_005247562.1:c.683T>C, XM_005247559.1:c.728T>C, XM_024453610.1:c.575T>C, NP_060306.4:p.Leu228Pro, XP_006713744.1:p.Leu228Pro, XP_005247622.1:p.Leu202Pro, XP_005247620.1:p.Leu228Pro, NP_001008487.1:p.Leu202Pro, XP_016862195.1:p.Leu228Pro, XP_016862196.1:p.Leu228Pro, XP_024309377.1:p.Leu228Pro, XP_011511247.1:p.Leu217Pro, NP_001157947.1:p.Leu111Pro, XP_016862194.1:p.Leu243Pro, NP_001008485.2:p.Leu228Pro, NP_001008486.2:p.Leu192Pro, XP_047304364.1:p.Leu217Pro, XP_047304363.1:p.Leu243Pro, XP_047304362.1:p.Leu243Pro, XP_005247621.1:p.Leu243Pro, XP_047304368.1:p.Leu163Pro, XP_016862198.1:p.Leu192Pro, XP_047304365.1:p.Leu192Pro, XP_016862197.1:p.Leu192Pro, XP_047304360.1:p.Leu243Pro, XP_047304361.1:p.Leu243Pro, XP_047304367.1:p.Leu163Pro, XP_005247619.1:p.Leu228Pro, XP_005247616.1:p.Leu243Pro, XP_024309378.1:p.Leu192Pro

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