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Items: 1 to 20 of 535

1.

rs1489178086 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    21:42568374 (GRCh38)
    21:43988484 (GRCh37)
    Canonical SPDI:
    NC_000021.9:42568373:T:C
    Gene:
    SLC37A1 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000021.9:g.42568374T>C, NC_000021.8:g.43988484T>C, NG_033931.1:g.73743T>C, NM_018964.4:c.1359T>C, NM_018964.3:c.1359T>C, NM_001320537.2:c.1359T>C, NM_001320537.1:c.1359T>C, XM_011529614.4:c.1452T>C, XM_011529614.3:c.1452T>C, XM_011529614.2:c.1452T>C, XM_011529614.1:c.1452T>C, XM_011529615.3:c.1452T>C, XM_011529615.2:c.1452T>C, XM_011529615.1:c.1452T>C, XM_017028376.3:c.1452T>C, XM_017028376.2:c.1452T>C, XM_017028376.1:c.1452T>C, XM_017028379.2:c.1359T>C, XM_017028379.1:c.1359T>C, XM_017028377.2:c.1359T>C, XM_017028377.1:c.1359T>C, XM_017028381.2:c.1359T>C, XM_017028381.1:c.1359T>C, XM_017028380.2:c.1359T>C, XM_017028380.1:c.1359T>C, XM_017028383.2:c.1359T>C, XM_047440843.1:c.1359T>C, XM_047440842.1:c.1359T>C, XM_047440845.1:c.1359T>C, XM_047440844.1:c.1359T>C, XM_047440849.1:c.1359T>C, XM_047440850.1:c.1359T>C, XM_047440846.1:c.1359T>C, XM_047440848.1:c.1359T>C, XM_047440847.1:c.1359T>C

    2.

    rs1489163621 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      21:42574898 (GRCh38)
      21:43995008 (GRCh37)
      Canonical SPDI:
      NC_000021.9:42574897:G:T
      Gene:
      SLC37A1 (Varview), LOC101928212 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000021.9:g.42574898G>T, NC_000021.8:g.43995008G>T, NG_033931.1:g.80267G>T, NM_018964.4:c.1504G>T, NM_018964.3:c.1504G>T, NM_001320537.2:c.1504G>T, NM_001320537.1:c.1504G>T, XM_011529614.4:c.1597G>T, XM_011529614.3:c.1597G>T, XM_011529614.2:c.1597G>T, XM_011529614.1:c.1597G>T, XM_011529615.3:c.1597G>T, XM_011529615.2:c.1597G>T, XM_011529615.1:c.1597G>T, XM_017028376.3:c.1597G>T, XM_017028376.2:c.1597G>T, XM_017028376.1:c.1597G>T, XM_017028379.2:c.1504G>T, XM_017028379.1:c.1504G>T, XM_017028377.2:c.1504G>T, XM_017028377.1:c.1504G>T, XM_017028381.2:c.1504G>T, XM_017028381.1:c.1504G>T, XM_017028380.2:c.1504G>T, XM_017028380.1:c.1504G>T, XM_017028383.2:c.1504G>T, XM_047440843.1:c.1504G>T, XM_047440842.1:c.1504G>T, XM_047440845.1:c.1504G>T, XM_047440844.1:c.1504G>T, XM_047440849.1:c.1504G>T, XM_047440850.1:c.1504G>T, XM_047440846.1:c.1504G>T, XM_047440848.1:c.1504G>T, XM_047440847.1:c.1504G>T, NP_061837.3:p.Asp502Tyr, NP_001307466.1:p.Asp502Tyr, XP_011527916.1:p.Asp533Tyr, XP_011527917.1:p.Asp533Tyr, XP_016883865.1:p.Asp533Tyr, XP_016883868.1:p.Asp502Tyr, XP_016883866.1:p.Asp502Tyr, XP_016883870.1:p.Asp502Tyr, XP_016883869.1:p.Asp502Tyr, XP_016883872.2:p.Asp502Tyr, XP_047296799.1:p.Asp502Tyr, XP_047296798.1:p.Asp502Tyr, XP_047296801.1:p.Asp502Tyr, XP_047296800.1:p.Asp502Tyr, XP_047296805.1:p.Asp502Tyr, XP_047296806.1:p.Asp502Tyr, XP_047296802.1:p.Asp502Tyr, XP_047296804.1:p.Asp502Tyr, XP_047296803.1:p.Asp502Tyr

      3.

      rs1487303220 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        21:42558960 (GRCh38)
        21:43979070 (GRCh37)
        Canonical SPDI:
        NC_000021.9:42558959:C:T
        Gene:
        SLC37A1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        NC_000021.9:g.42558960C>T, NC_000021.8:g.43979070C>T, NG_033931.1:g.64329C>T, NM_018964.4:c.852C>T, NM_018964.3:c.852C>T, NM_001320537.2:c.852C>T, NM_001320537.1:c.852C>T, XM_011529614.4:c.945C>T, XM_011529614.3:c.945C>T, XM_011529614.2:c.945C>T, XM_011529614.1:c.945C>T, XM_011529615.3:c.945C>T, XM_011529615.2:c.945C>T, XM_011529615.1:c.945C>T, XM_017028376.3:c.945C>T, XM_017028376.2:c.945C>T, XM_017028376.1:c.945C>T, XM_017028379.2:c.852C>T, XM_017028379.1:c.852C>T, XM_017028377.2:c.852C>T, XM_017028377.1:c.852C>T, XM_017028381.2:c.852C>T, XM_017028381.1:c.852C>T, XM_017028380.2:c.852C>T, XM_017028380.1:c.852C>T, XM_017028383.2:c.852C>T, XM_017028383.1:c.852C>T, XM_047440843.1:c.852C>T, XM_047440842.1:c.852C>T, XM_047440845.1:c.852C>T, XM_047440844.1:c.852C>T, XM_047440849.1:c.852C>T, XM_047440850.1:c.852C>T, XM_047440846.1:c.852C>T, XM_047440848.1:c.852C>T, XM_047440847.1:c.852C>T

        4.

        rs1487016393 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          21:42543523 (GRCh38)
          21:43963633 (GRCh37)
          Canonical SPDI:
          NC_000021.9:42543522:A:T
          Gene:
          SLC37A1 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000021.9:g.42543523A>T, NC_000021.8:g.43963633A>T, NG_033931.1:g.48892A>T, NM_018964.4:c.651A>T, NM_018964.3:c.651A>T, NM_001320537.2:c.651A>T, NM_001320537.1:c.651A>T, XM_011529614.4:c.744A>T, XM_011529614.3:c.744A>T, XM_011529614.2:c.744A>T, XM_011529614.1:c.744A>T, XM_011529615.3:c.744A>T, XM_011529615.2:c.744A>T, XM_011529615.1:c.744A>T, XM_017028376.3:c.744A>T, XM_017028376.2:c.744A>T, XM_017028376.1:c.744A>T, XM_017028379.2:c.651A>T, XM_017028379.1:c.651A>T, XM_017028377.2:c.651A>T, XM_017028377.1:c.651A>T, XM_017028381.2:c.651A>T, XM_017028381.1:c.651A>T, XM_017028380.2:c.651A>T, XM_017028380.1:c.651A>T, XM_017028383.2:c.651A>T, XM_017028383.1:c.651A>T, XM_047440843.1:c.651A>T, XM_047440842.1:c.651A>T, XM_047440845.1:c.651A>T, XM_047440844.1:c.651A>T, XM_047440849.1:c.651A>T, XM_047440850.1:c.651A>T, XM_047440846.1:c.651A>T, XM_047440848.1:c.651A>T, XM_047440847.1:c.651A>T

          5.

          rs1485518509 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            21:42554068 (GRCh38)
            21:43974178 (GRCh37)
            Canonical SPDI:
            NC_000021.9:42554067:A:G
            Gene:
            SLC37A1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000021.9:g.42554068A>G, NC_000021.8:g.43974178A>G, NG_033931.1:g.59437A>G, NM_018964.4:c.775A>G, NM_018964.3:c.775A>G, NM_001320537.2:c.775A>G, NM_001320537.1:c.775A>G, XM_011529614.4:c.868A>G, XM_011529614.3:c.868A>G, XM_011529614.2:c.868A>G, XM_011529614.1:c.868A>G, XM_011529615.3:c.868A>G, XM_011529615.2:c.868A>G, XM_011529615.1:c.868A>G, XM_017028376.3:c.868A>G, XM_017028376.2:c.868A>G, XM_017028376.1:c.868A>G, XM_017028379.2:c.775A>G, XM_017028379.1:c.775A>G, XM_017028377.2:c.775A>G, XM_017028377.1:c.775A>G, XM_017028381.2:c.775A>G, XM_017028381.1:c.775A>G, XM_017028380.2:c.775A>G, XM_017028380.1:c.775A>G, XM_017028383.2:c.775A>G, XM_017028383.1:c.775A>G, XM_047440843.1:c.775A>G, XM_047440842.1:c.775A>G, XM_047440845.1:c.775A>G, XM_047440844.1:c.775A>G, XM_047440849.1:c.775A>G, XM_047440850.1:c.775A>G, XM_047440846.1:c.775A>G, XM_047440848.1:c.775A>G, XM_047440847.1:c.775A>G, NP_061837.3:p.Lys259Glu, NP_001307466.1:p.Lys259Glu, XP_011527916.1:p.Lys290Glu, XP_011527917.1:p.Lys290Glu, XP_016883865.1:p.Lys290Glu, XP_016883868.1:p.Lys259Glu, XP_016883866.1:p.Lys259Glu, XP_016883870.1:p.Lys259Glu, XP_016883869.1:p.Lys259Glu, XP_016883872.2:p.Lys259Glu, XP_047296799.1:p.Lys259Glu, XP_047296798.1:p.Lys259Glu, XP_047296801.1:p.Lys259Glu, XP_047296800.1:p.Lys259Glu, XP_047296805.1:p.Lys259Glu, XP_047296806.1:p.Lys259Glu, XP_047296802.1:p.Lys259Glu, XP_047296804.1:p.Lys259Glu, XP_047296803.1:p.Lys259Glu

            6.

            rs1483097031 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              21:42564752 (GRCh38)
              21:43984862 (GRCh37)
              Canonical SPDI:
              NC_000021.9:42564751:G:T
              Gene:
              SLC37A1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.42564752G>T, NC_000021.8:g.43984862G>T, NG_033931.1:g.70121G>T, NM_018964.4:c.1180G>T, NM_018964.3:c.1180G>T, NM_001320537.2:c.1180G>T, NM_001320537.1:c.1180G>T, XM_011529614.4:c.1273G>T, XM_011529614.3:c.1273G>T, XM_011529614.2:c.1273G>T, XM_011529614.1:c.1273G>T, XM_011529615.3:c.1273G>T, XM_011529615.2:c.1273G>T, XM_011529615.1:c.1273G>T, XM_017028376.3:c.1273G>T, XM_017028376.2:c.1273G>T, XM_017028376.1:c.1273G>T, XM_017028379.2:c.1180G>T, XM_017028379.1:c.1180G>T, XM_017028377.2:c.1180G>T, XM_017028377.1:c.1180G>T, XM_017028381.2:c.1180G>T, XM_017028381.1:c.1180G>T, XM_017028380.2:c.1180G>T, XM_017028380.1:c.1180G>T, XM_017028383.2:c.1180G>T, XM_047440843.1:c.1180G>T, XM_047440842.1:c.1180G>T, XM_047440845.1:c.1180G>T, XM_047440844.1:c.1180G>T, XM_047440849.1:c.1180G>T, XM_047440850.1:c.1180G>T, XM_047440846.1:c.1180G>T, XM_047440848.1:c.1180G>T, XM_047440847.1:c.1180G>T, NP_061837.3:p.Ala394Ser, NP_001307466.1:p.Ala394Ser, XP_011527916.1:p.Ala425Ser, XP_011527917.1:p.Ala425Ser, XP_016883865.1:p.Ala425Ser, XP_016883868.1:p.Ala394Ser, XP_016883866.1:p.Ala394Ser, XP_016883870.1:p.Ala394Ser, XP_016883869.1:p.Ala394Ser, XP_016883872.2:p.Ala394Ser, XP_047296799.1:p.Ala394Ser, XP_047296798.1:p.Ala394Ser, XP_047296801.1:p.Ala394Ser, XP_047296800.1:p.Ala394Ser, XP_047296805.1:p.Ala394Ser, XP_047296806.1:p.Ala394Ser, XP_047296802.1:p.Ala394Ser, XP_047296804.1:p.Ala394Ser, XP_047296803.1:p.Ala394Ser

              7.

              rs1481813061 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                21:42539595 (GRCh38)
                21:43959705 (GRCh37)
                Canonical SPDI:
                NC_000021.9:42539594:G:A
                Gene:
                SLC37A1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                HGVS:
                NC_000021.9:g.42539595G>A, NC_000021.8:g.43959705G>A, NG_033931.1:g.44964G>A, NM_018964.4:c.434G>A, NM_018964.3:c.434G>A, NM_001320537.2:c.434G>A, NM_001320537.1:c.434G>A, XM_011529614.4:c.527G>A, XM_011529614.3:c.527G>A, XM_011529614.2:c.527G>A, XM_011529614.1:c.527G>A, XM_011529615.3:c.527G>A, XM_011529615.2:c.527G>A, XM_011529615.1:c.527G>A, XM_017028376.3:c.527G>A, XM_017028376.2:c.527G>A, XM_017028376.1:c.527G>A, XM_017028379.2:c.434G>A, XM_017028379.1:c.434G>A, XM_017028377.2:c.434G>A, XM_017028377.1:c.434G>A, XM_017028381.2:c.434G>A, XM_017028381.1:c.434G>A, XM_017028380.2:c.434G>A, XM_017028380.1:c.434G>A, XM_017028383.2:c.434G>A, XM_017028383.1:c.434G>A, XM_047440843.1:c.434G>A, XM_047440842.1:c.434G>A, XM_047440845.1:c.434G>A, XM_047440844.1:c.434G>A, XM_047440849.1:c.434G>A, XM_047440850.1:c.434G>A, XM_047440846.1:c.434G>A, XM_047440848.1:c.434G>A, XM_047440847.1:c.434G>A, NP_061837.3:p.Gly145Asp, NP_001307466.1:p.Gly145Asp, XP_011527916.1:p.Gly176Asp, XP_011527917.1:p.Gly176Asp, XP_016883865.1:p.Gly176Asp, XP_016883868.1:p.Gly145Asp, XP_016883866.1:p.Gly145Asp, XP_016883870.1:p.Gly145Asp, XP_016883869.1:p.Gly145Asp, XP_016883872.2:p.Gly145Asp, XP_047296799.1:p.Gly145Asp, XP_047296798.1:p.Gly145Asp, XP_047296801.1:p.Gly145Asp, XP_047296800.1:p.Gly145Asp, XP_047296805.1:p.Gly145Asp, XP_047296806.1:p.Gly145Asp, XP_047296802.1:p.Gly145Asp, XP_047296804.1:p.Gly145Asp, XP_047296803.1:p.Gly145Asp

                8.

                rs1480425936 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  21:42539617 (GRCh38)
                  21:43959727 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:42539616:C:A,NC_000021.9:42539616:C:T
                  Gene:
                  SLC37A1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000021.9:g.42539617C>A, NC_000021.9:g.42539617C>T, NC_000021.8:g.43959727C>A, NC_000021.8:g.43959727C>T, NG_033931.1:g.44986C>A, NG_033931.1:g.44986C>T, NM_018964.4:c.456C>A, NM_018964.4:c.456C>T, NM_018964.3:c.456C>A, NM_018964.3:c.456C>T, NM_001320537.2:c.456C>A, NM_001320537.2:c.456C>T, NM_001320537.1:c.456C>A, NM_001320537.1:c.456C>T, XM_011529614.4:c.549C>A, XM_011529614.4:c.549C>T, XM_011529614.3:c.549C>A, XM_011529614.3:c.549C>T, XM_011529614.2:c.549C>A, XM_011529614.2:c.549C>T, XM_011529614.1:c.549C>A, XM_011529614.1:c.549C>T, XM_011529615.3:c.549C>A, XM_011529615.3:c.549C>T, XM_011529615.2:c.549C>A, XM_011529615.2:c.549C>T, XM_011529615.1:c.549C>A, XM_011529615.1:c.549C>T, XM_017028376.3:c.549C>A, XM_017028376.3:c.549C>T, XM_017028376.2:c.549C>A, XM_017028376.2:c.549C>T, XM_017028376.1:c.549C>A, XM_017028376.1:c.549C>T, XM_017028379.2:c.456C>A, XM_017028379.2:c.456C>T, XM_017028379.1:c.456C>A, XM_017028379.1:c.456C>T, XM_017028377.2:c.456C>A, XM_017028377.2:c.456C>T, XM_017028377.1:c.456C>A, XM_017028377.1:c.456C>T, XM_017028381.2:c.456C>A, XM_017028381.2:c.456C>T, XM_017028381.1:c.456C>A, XM_017028381.1:c.456C>T, XM_017028380.2:c.456C>A, XM_017028380.2:c.456C>T, XM_017028380.1:c.456C>A, XM_017028380.1:c.456C>T, XM_017028383.2:c.456C>A, XM_017028383.2:c.456C>T, XM_017028383.1:c.456C>A, XM_017028383.1:c.456C>T, XM_047440843.1:c.456C>A, XM_047440843.1:c.456C>T, XM_047440842.1:c.456C>A, XM_047440842.1:c.456C>T, XM_047440845.1:c.456C>A, XM_047440845.1:c.456C>T, XM_047440844.1:c.456C>A, XM_047440844.1:c.456C>T, XM_047440849.1:c.456C>A, XM_047440849.1:c.456C>T, XM_047440850.1:c.456C>A, XM_047440850.1:c.456C>T, XM_047440846.1:c.456C>A, XM_047440846.1:c.456C>T, XM_047440848.1:c.456C>A, XM_047440848.1:c.456C>T, XM_047440847.1:c.456C>A, XM_047440847.1:c.456C>T

                  9.

                  rs1479445349 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C,T [Show Flanks]
                    Chromosome:
                    21:42558988 (GRCh38)
                    21:43979098 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:42558987:G:A,NC_000021.9:42558987:G:C,NC_000021.9:42558987:G:T
                    Gene:
                    SLC37A1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000021/3 (GnomAD)
                    T=0.000312/2 (1000Genomes)
                    HGVS:
                    NC_000021.9:g.42558988G>A, NC_000021.9:g.42558988G>C, NC_000021.9:g.42558988G>T, NC_000021.8:g.43979098G>A, NC_000021.8:g.43979098G>C, NC_000021.8:g.43979098G>T, NG_033931.1:g.64357G>A, NG_033931.1:g.64357G>C, NG_033931.1:g.64357G>T, NM_018964.4:c.880G>A, NM_018964.4:c.880G>C, NM_018964.4:c.880G>T, NM_018964.3:c.880G>A, NM_018964.3:c.880G>C, NM_018964.3:c.880G>T, NM_001320537.2:c.880G>A, NM_001320537.2:c.880G>C, NM_001320537.2:c.880G>T, NM_001320537.1:c.880G>A, NM_001320537.1:c.880G>C, NM_001320537.1:c.880G>T, XM_011529614.4:c.973G>A, XM_011529614.4:c.973G>C, XM_011529614.4:c.973G>T, XM_011529614.3:c.973G>A, XM_011529614.3:c.973G>C, XM_011529614.3:c.973G>T, XM_011529614.2:c.973G>A, XM_011529614.2:c.973G>C, XM_011529614.2:c.973G>T, XM_011529614.1:c.973G>A, XM_011529614.1:c.973G>C, XM_011529614.1:c.973G>T, XM_011529615.3:c.973G>A, XM_011529615.3:c.973G>C, XM_011529615.3:c.973G>T, XM_011529615.2:c.973G>A, XM_011529615.2:c.973G>C, XM_011529615.2:c.973G>T, XM_011529615.1:c.973G>A, XM_011529615.1:c.973G>C, XM_011529615.1:c.973G>T, XM_017028376.3:c.973G>A, XM_017028376.3:c.973G>C, XM_017028376.3:c.973G>T, XM_017028376.2:c.973G>A, XM_017028376.2:c.973G>C, XM_017028376.2:c.973G>T, XM_017028376.1:c.973G>A, XM_017028376.1:c.973G>C, XM_017028376.1:c.973G>T, XM_017028379.2:c.880G>A, XM_017028379.2:c.880G>C, XM_017028379.2:c.880G>T, XM_017028379.1:c.880G>A, XM_017028379.1:c.880G>C, XM_017028379.1:c.880G>T, XM_017028377.2:c.880G>A, XM_017028377.2:c.880G>C, XM_017028377.2:c.880G>T, XM_017028377.1:c.880G>A, XM_017028377.1:c.880G>C, XM_017028377.1:c.880G>T, XM_017028381.2:c.880G>A, XM_017028381.2:c.880G>C, XM_017028381.2:c.880G>T, XM_017028381.1:c.880G>A, XM_017028381.1:c.880G>C, XM_017028381.1:c.880G>T, XM_017028380.2:c.880G>A, XM_017028380.2:c.880G>C, XM_017028380.2:c.880G>T, XM_017028380.1:c.880G>A, XM_017028380.1:c.880G>C, XM_017028380.1:c.880G>T, XM_017028383.2:c.880G>A, XM_017028383.2:c.880G>C, XM_017028383.2:c.880G>T, XM_017028383.1:c.880G>A, XM_017028383.1:c.880G>C, XM_017028383.1:c.880G>T, XM_047440843.1:c.880G>A, XM_047440843.1:c.880G>C, XM_047440843.1:c.880G>T, XM_047440842.1:c.880G>A, XM_047440842.1:c.880G>C, XM_047440842.1:c.880G>T, XM_047440845.1:c.880G>A, XM_047440845.1:c.880G>C, XM_047440845.1:c.880G>T, XM_047440844.1:c.880G>A, XM_047440844.1:c.880G>C, XM_047440844.1:c.880G>T, XM_047440849.1:c.880G>A, XM_047440849.1:c.880G>C, XM_047440849.1:c.880G>T, XM_047440850.1:c.880G>A, XM_047440850.1:c.880G>C, XM_047440850.1:c.880G>T, XM_047440846.1:c.880G>A, XM_047440846.1:c.880G>C, XM_047440846.1:c.880G>T, XM_047440848.1:c.880G>A, XM_047440848.1:c.880G>C, XM_047440848.1:c.880G>T, XM_047440847.1:c.880G>A, XM_047440847.1:c.880G>C, XM_047440847.1:c.880G>T, NP_061837.3:p.Asp294Asn, NP_061837.3:p.Asp294His, NP_061837.3:p.Asp294Tyr, NP_001307466.1:p.Asp294Asn, NP_001307466.1:p.Asp294His, NP_001307466.1:p.Asp294Tyr, XP_011527916.1:p.Asp325Asn, XP_011527916.1:p.Asp325His, XP_011527916.1:p.Asp325Tyr, XP_011527917.1:p.Asp325Asn, XP_011527917.1:p.Asp325His, XP_011527917.1:p.Asp325Tyr, XP_016883865.1:p.Asp325Asn, XP_016883865.1:p.Asp325His, XP_016883865.1:p.Asp325Tyr, XP_016883868.1:p.Asp294Asn, XP_016883868.1:p.Asp294His, XP_016883868.1:p.Asp294Tyr, XP_016883866.1:p.Asp294Asn, XP_016883866.1:p.Asp294His, XP_016883866.1:p.Asp294Tyr, XP_016883870.1:p.Asp294Asn, XP_016883870.1:p.Asp294His, XP_016883870.1:p.Asp294Tyr, XP_016883869.1:p.Asp294Asn, XP_016883869.1:p.Asp294His, XP_016883869.1:p.Asp294Tyr, XP_016883872.2:p.Asp294Asn, XP_016883872.2:p.Asp294His, XP_016883872.2:p.Asp294Tyr, XP_047296799.1:p.Asp294Asn, XP_047296799.1:p.Asp294His, XP_047296799.1:p.Asp294Tyr, XP_047296798.1:p.Asp294Asn, XP_047296798.1:p.Asp294His, XP_047296798.1:p.Asp294Tyr, XP_047296801.1:p.Asp294Asn, XP_047296801.1:p.Asp294His, XP_047296801.1:p.Asp294Tyr, XP_047296800.1:p.Asp294Asn, XP_047296800.1:p.Asp294His, XP_047296800.1:p.Asp294Tyr, XP_047296805.1:p.Asp294Asn, XP_047296805.1:p.Asp294His, XP_047296805.1:p.Asp294Tyr, XP_047296806.1:p.Asp294Asn, XP_047296806.1:p.Asp294His, XP_047296806.1:p.Asp294Tyr, XP_047296802.1:p.Asp294Asn, XP_047296802.1:p.Asp294His, XP_047296802.1:p.Asp294Tyr, XP_047296804.1:p.Asp294Asn, XP_047296804.1:p.Asp294His, XP_047296804.1:p.Asp294Tyr, XP_047296803.1:p.Asp294Asn, XP_047296803.1:p.Asp294His, XP_047296803.1:p.Asp294Tyr

                    10.

                    rs1475806911 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      21:42539642 (GRCh38)
                      21:43959752 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:42539641:A:C
                      Gene:
                      SLC37A1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000021.9:g.42539642A>C, NC_000021.8:g.43959752A>C, NG_033931.1:g.45011A>C, NM_018964.4:c.481A>C, NM_018964.3:c.481A>C, NM_001320537.2:c.481A>C, NM_001320537.1:c.481A>C, XM_011529614.4:c.574A>C, XM_011529614.3:c.574A>C, XM_011529614.2:c.574A>C, XM_011529614.1:c.574A>C, XM_011529615.3:c.574A>C, XM_011529615.2:c.574A>C, XM_011529615.1:c.574A>C, XM_017028376.3:c.574A>C, XM_017028376.2:c.574A>C, XM_017028376.1:c.574A>C, XM_017028379.2:c.481A>C, XM_017028379.1:c.481A>C, XM_017028377.2:c.481A>C, XM_017028377.1:c.481A>C, XM_017028381.2:c.481A>C, XM_017028381.1:c.481A>C, XM_017028380.2:c.481A>C, XM_017028380.1:c.481A>C, XM_017028383.2:c.481A>C, XM_017028383.1:c.481A>C, XM_047440843.1:c.481A>C, XM_047440842.1:c.481A>C, XM_047440845.1:c.481A>C, XM_047440844.1:c.481A>C, XM_047440849.1:c.481A>C, XM_047440850.1:c.481A>C, XM_047440846.1:c.481A>C, XM_047440848.1:c.481A>C, XM_047440847.1:c.481A>C, NP_061837.3:p.Thr161Pro, NP_001307466.1:p.Thr161Pro, XP_011527916.1:p.Thr192Pro, XP_011527917.1:p.Thr192Pro, XP_016883865.1:p.Thr192Pro, XP_016883868.1:p.Thr161Pro, XP_016883866.1:p.Thr161Pro, XP_016883870.1:p.Thr161Pro, XP_016883869.1:p.Thr161Pro, XP_016883872.2:p.Thr161Pro, XP_047296799.1:p.Thr161Pro, XP_047296798.1:p.Thr161Pro, XP_047296801.1:p.Thr161Pro, XP_047296800.1:p.Thr161Pro, XP_047296805.1:p.Thr161Pro, XP_047296806.1:p.Thr161Pro, XP_047296802.1:p.Thr161Pro, XP_047296804.1:p.Thr161Pro, XP_047296803.1:p.Thr161Pro

                      11.

                      rs1473709338 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        21:42579785 (GRCh38)
                        21:43999895 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:42579784:C:T
                        Gene:
                        SLC37A1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1473451452 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          21:42543532 (GRCh38)
                          21:43963642 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:42543531:C:G
                          Gene:
                          SLC37A1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_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_000021.9:g.42543532C>G, NC_000021.8:g.43963642C>G, NG_033931.1:g.48901C>G, NM_018964.4:c.660C>G, NM_018964.3:c.660C>G, NM_001320537.2:c.660C>G, NM_001320537.1:c.660C>G, XM_011529614.4:c.753C>G, XM_011529614.3:c.753C>G, XM_011529614.2:c.753C>G, XM_011529614.1:c.753C>G, XM_011529615.3:c.753C>G, XM_011529615.2:c.753C>G, XM_011529615.1:c.753C>G, XM_017028376.3:c.753C>G, XM_017028376.2:c.753C>G, XM_017028376.1:c.753C>G, XM_017028379.2:c.660C>G, XM_017028379.1:c.660C>G, XM_017028377.2:c.660C>G, XM_017028377.1:c.660C>G, XM_017028381.2:c.660C>G, XM_017028381.1:c.660C>G, XM_017028380.2:c.660C>G, XM_017028380.1:c.660C>G, XM_017028383.2:c.660C>G, XM_017028383.1:c.660C>G, XM_047440843.1:c.660C>G, XM_047440842.1:c.660C>G, XM_047440845.1:c.660C>G, XM_047440844.1:c.660C>G, XM_047440849.1:c.660C>G, XM_047440850.1:c.660C>G, XM_047440846.1:c.660C>G, XM_047440848.1:c.660C>G, XM_047440847.1:c.660C>G

                          13.

                          rs1472904070 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            21:42579784 (GRCh38)
                            21:43999894 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:42579783:A:G
                            Gene:
                            SLC37A1 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000021.9:g.42579784A>G, NC_000021.8:g.43999894A>G, NG_033931.1:g.85153A>G, NM_018964.4:c.1570A>G, NM_018964.3:c.1570A>G, NM_001320537.2:c.1570A>G, NM_001320537.1:c.1570A>G, XM_011529615.3:c.1663A>G, XM_011529615.2:c.1663A>G, XM_011529615.1:c.1663A>G, XM_017028379.2:c.1570A>G, XM_017028379.1:c.1570A>G, XM_017028377.2:c.1570A>G, XM_017028377.1:c.1570A>G, XM_017028380.2:c.1570A>G, XM_017028380.1:c.1570A>G, XM_047440843.1:c.1835A>G, XM_047440842.1:c.1835A>G, XM_047440845.1:c.1835A>G, XM_047440844.1:c.1835A>G, XM_047440849.1:c.1570A>G, NP_061837.3:p.Thr524Ala, NP_001307466.1:p.Thr524Ala, XP_011527917.1:p.Thr555Ala, XP_016883868.1:p.Thr524Ala, XP_016883866.1:p.Thr524Ala, XP_016883869.1:p.Thr524Ala, XP_047296799.1:p.Tyr612Cys, XP_047296798.1:p.Tyr612Cys, XP_047296801.1:p.Tyr612Cys, XP_047296800.1:p.Tyr612Cys, XP_047296805.1:p.Thr524Ala

                            14.

                            rs1472581025 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              21:42564711 (GRCh38)
                              21:43984821 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:42564710:G:A
                              Gene:
                              SLC37A1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000021.9:g.42564711G>A, NC_000021.8:g.43984821G>A, NG_033931.1:g.70080G>A, NM_018964.4:c.1139G>A, NM_018964.3:c.1139G>A, NM_001320537.2:c.1139G>A, NM_001320537.1:c.1139G>A, XM_011529614.4:c.1232G>A, XM_011529614.3:c.1232G>A, XM_011529614.2:c.1232G>A, XM_011529614.1:c.1232G>A, XM_011529615.3:c.1232G>A, XM_011529615.2:c.1232G>A, XM_011529615.1:c.1232G>A, XM_017028376.3:c.1232G>A, XM_017028376.2:c.1232G>A, XM_017028376.1:c.1232G>A, XM_017028379.2:c.1139G>A, XM_017028379.1:c.1139G>A, XM_017028377.2:c.1139G>A, XM_017028377.1:c.1139G>A, XM_017028381.2:c.1139G>A, XM_017028381.1:c.1139G>A, XM_017028380.2:c.1139G>A, XM_017028380.1:c.1139G>A, XM_017028383.2:c.1139G>A, XM_047440843.1:c.1139G>A, XM_047440842.1:c.1139G>A, XM_047440845.1:c.1139G>A, XM_047440844.1:c.1139G>A, XM_047440849.1:c.1139G>A, XM_047440850.1:c.1139G>A, XM_047440846.1:c.1139G>A, XM_047440848.1:c.1139G>A, XM_047440847.1:c.1139G>A, NP_061837.3:p.Gly380Glu, NP_001307466.1:p.Gly380Glu, XP_011527916.1:p.Gly411Glu, XP_011527917.1:p.Gly411Glu, XP_016883865.1:p.Gly411Glu, XP_016883868.1:p.Gly380Glu, XP_016883866.1:p.Gly380Glu, XP_016883870.1:p.Gly380Glu, XP_016883869.1:p.Gly380Glu, XP_016883872.2:p.Gly380Glu, XP_047296799.1:p.Gly380Glu, XP_047296798.1:p.Gly380Glu, XP_047296801.1:p.Gly380Glu, XP_047296800.1:p.Gly380Glu, XP_047296805.1:p.Gly380Glu, XP_047296806.1:p.Gly380Glu, XP_047296802.1:p.Gly380Glu, XP_047296804.1:p.Gly380Glu, XP_047296803.1:p.Gly380Glu

                              15.

                              rs1472019709 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                21:42568425 (GRCh38)
                                21:43988535 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:42568424:G:A
                                Gene:
                                SLC37A1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000021.9:g.42568425G>A, NC_000021.8:g.43988535G>A, NG_033931.1:g.73794G>A, NM_018964.4:c.1410G>A, NM_018964.3:c.1410G>A, NM_001320537.2:c.1410G>A, NM_001320537.1:c.1410G>A, XM_011529614.4:c.1503G>A, XM_011529614.3:c.1503G>A, XM_011529614.2:c.1503G>A, XM_011529614.1:c.1503G>A, XM_011529615.3:c.1503G>A, XM_011529615.2:c.1503G>A, XM_011529615.1:c.1503G>A, XM_017028376.3:c.1503G>A, XM_017028376.2:c.1503G>A, XM_017028376.1:c.1503G>A, XM_017028379.2:c.1410G>A, XM_017028379.1:c.1410G>A, XM_017028377.2:c.1410G>A, XM_017028377.1:c.1410G>A, XM_017028381.2:c.1410G>A, XM_017028381.1:c.1410G>A, XM_017028380.2:c.1410G>A, XM_017028380.1:c.1410G>A, XM_017028383.2:c.1410G>A, XM_047440843.1:c.1410G>A, XM_047440842.1:c.1410G>A, XM_047440845.1:c.1410G>A, XM_047440844.1:c.1410G>A, XM_047440849.1:c.1410G>A, XM_047440850.1:c.1410G>A, XM_047440846.1:c.1410G>A, XM_047440848.1:c.1410G>A, XM_047440847.1:c.1410G>A

                                16.

                                rs1470276728 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  21:42558974 (GRCh38)
                                  21:43979084 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:42558973:G:A
                                  Gene:
                                  SLC37A1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000021.9:g.42558974G>A, NC_000021.8:g.43979084G>A, NG_033931.1:g.64343G>A, NM_018964.4:c.866G>A, NM_018964.3:c.866G>A, NM_001320537.2:c.866G>A, NM_001320537.1:c.866G>A, XM_011529614.4:c.959G>A, XM_011529614.3:c.959G>A, XM_011529614.2:c.959G>A, XM_011529614.1:c.959G>A, XM_011529615.3:c.959G>A, XM_011529615.2:c.959G>A, XM_011529615.1:c.959G>A, XM_017028376.3:c.959G>A, XM_017028376.2:c.959G>A, XM_017028376.1:c.959G>A, XM_017028379.2:c.866G>A, XM_017028379.1:c.866G>A, XM_017028377.2:c.866G>A, XM_017028377.1:c.866G>A, XM_017028381.2:c.866G>A, XM_017028381.1:c.866G>A, XM_017028380.2:c.866G>A, XM_017028380.1:c.866G>A, XM_017028383.2:c.866G>A, XM_017028383.1:c.866G>A, XM_047440843.1:c.866G>A, XM_047440842.1:c.866G>A, XM_047440845.1:c.866G>A, XM_047440844.1:c.866G>A, XM_047440849.1:c.866G>A, XM_047440850.1:c.866G>A, XM_047440846.1:c.866G>A, XM_047440848.1:c.866G>A, XM_047440847.1:c.866G>A, NP_061837.3:p.Cys289Tyr, NP_001307466.1:p.Cys289Tyr, XP_011527916.1:p.Cys320Tyr, XP_011527917.1:p.Cys320Tyr, XP_016883865.1:p.Cys320Tyr, XP_016883868.1:p.Cys289Tyr, XP_016883866.1:p.Cys289Tyr, XP_016883870.1:p.Cys289Tyr, XP_016883869.1:p.Cys289Tyr, XP_016883872.2:p.Cys289Tyr, XP_047296799.1:p.Cys289Tyr, XP_047296798.1:p.Cys289Tyr, XP_047296801.1:p.Cys289Tyr, XP_047296800.1:p.Cys289Tyr, XP_047296805.1:p.Cys289Tyr, XP_047296806.1:p.Cys289Tyr, XP_047296802.1:p.Cys289Tyr, XP_047296804.1:p.Cys289Tyr, XP_047296803.1:p.Cys289Tyr

                                  17.

                                  rs1469640680 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->CAGTGCCTGCTGCTCTCAGATG [Show Flanks]
                                    Chromosome:
                                    21:42558964 (GRCh38)
                                    21:43979075 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:42558964:AGATGCAGTGCCTGCTGCTCTCAGATG:AGATGCAGTGCCTGCTGCTCTCAGATGCAGTGCCTGCTGCTCTCAGATG
                                    Gene:
                                    SLC37A1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,frameshift_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    AGATGCAGTGCCTGCTGCTCTC=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000021.9:g.42558970_42558991dup, NC_000021.8:g.43979080_43979101dup, NG_033931.1:g.64339_64360dup, NM_018964.4:c.862_883dup, NM_018964.3:c.862_883dup, NM_001320537.2:c.862_883dup, NM_001320537.1:c.862_883dup, XM_011529614.4:c.955_976dup, XM_011529614.3:c.955_976dup, XM_011529614.2:c.955_976dup, XM_011529614.1:c.955_976dup, XM_011529615.3:c.955_976dup, XM_011529615.2:c.955_976dup, XM_011529615.1:c.955_976dup, XM_017028376.3:c.955_976dup, XM_017028376.2:c.955_976dup, XM_017028376.1:c.955_976dup, XM_017028379.2:c.862_883dup, XM_017028379.1:c.862_883dup, XM_017028377.2:c.862_883dup, XM_017028377.1:c.862_883dup, XM_017028381.2:c.862_883dup, XM_017028381.1:c.862_883dup, XM_017028380.2:c.862_883dup, XM_017028380.1:c.862_883dup, XM_017028383.2:c.862_883dup, XM_017028383.1:c.862_883dup, XM_047440843.1:c.862_883dup, XM_047440842.1:c.862_883dup, XM_047440845.1:c.862_883dup, XM_047440844.1:c.862_883dup, XM_047440849.1:c.862_883dup, XM_047440850.1:c.862_883dup, XM_047440846.1:c.862_883dup, XM_047440848.1:c.862_883dup, XM_047440847.1:c.862_883dup, NP_061837.3:p.Gly295fs, NP_001307466.1:p.Gly295fs, XP_011527916.1:p.Gly326fs, XP_011527917.1:p.Gly326fs, XP_016883865.1:p.Gly326fs, XP_016883868.1:p.Gly295fs, XP_016883866.1:p.Gly295fs, XP_016883870.1:p.Gly295fs, XP_016883869.1:p.Gly295fs, XP_016883872.2:p.Gly295fs, XP_047296799.1:p.Gly295fs, XP_047296798.1:p.Gly295fs, XP_047296801.1:p.Gly295fs, XP_047296800.1:p.Gly295fs, XP_047296805.1:p.Gly295fs, XP_047296806.1:p.Gly295fs, XP_047296802.1:p.Gly295fs, XP_047296804.1:p.Gly295fs, XP_047296803.1:p.Gly295fs

                                    18.

                                    rs1468542732 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      21:42564779 (GRCh38)
                                      21:43984889 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:42564778:C:T
                                      Gene:
                                      SLC37A1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000021.9:g.42564779C>T, NC_000021.8:g.43984889C>T, NG_033931.1:g.70148C>T, NM_018964.4:c.1207C>T, NM_018964.3:c.1207C>T, NM_001320537.2:c.1207C>T, NM_001320537.1:c.1207C>T, XM_011529614.4:c.1300C>T, XM_011529614.3:c.1300C>T, XM_011529614.2:c.1300C>T, XM_011529614.1:c.1300C>T, XM_011529615.3:c.1300C>T, XM_011529615.2:c.1300C>T, XM_011529615.1:c.1300C>T, XM_017028376.3:c.1300C>T, XM_017028376.2:c.1300C>T, XM_017028376.1:c.1300C>T, XM_017028379.2:c.1207C>T, XM_017028379.1:c.1207C>T, XM_017028377.2:c.1207C>T, XM_017028377.1:c.1207C>T, XM_017028381.2:c.1207C>T, XM_017028381.1:c.1207C>T, XM_017028380.2:c.1207C>T, XM_017028380.1:c.1207C>T, XM_017028383.2:c.1207C>T, XM_047440843.1:c.1207C>T, XM_047440842.1:c.1207C>T, XM_047440845.1:c.1207C>T, XM_047440844.1:c.1207C>T, XM_047440849.1:c.1207C>T, XM_047440850.1:c.1207C>T, XM_047440846.1:c.1207C>T, XM_047440848.1:c.1207C>T, XM_047440847.1:c.1207C>T, NP_061837.3:p.Leu403Phe, NP_001307466.1:p.Leu403Phe, XP_011527916.1:p.Leu434Phe, XP_011527917.1:p.Leu434Phe, XP_016883865.1:p.Leu434Phe, XP_016883868.1:p.Leu403Phe, XP_016883866.1:p.Leu403Phe, XP_016883870.1:p.Leu403Phe, XP_016883869.1:p.Leu403Phe, XP_016883872.2:p.Leu403Phe, XP_047296799.1:p.Leu403Phe, XP_047296798.1:p.Leu403Phe, XP_047296801.1:p.Leu403Phe, XP_047296800.1:p.Leu403Phe, XP_047296805.1:p.Leu403Phe, XP_047296806.1:p.Leu403Phe, XP_047296802.1:p.Leu403Phe, XP_047296804.1:p.Leu403Phe, XP_047296803.1:p.Leu403Phe

                                      19.

                                      rs1468304901 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        21:42562158 (GRCh38)
                                        21:43982268 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:42562157:C:T
                                        Gene:
                                        SLC37A1 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000021.9:g.42562158C>T, NC_000021.8:g.43982268C>T, NG_033931.1:g.67527C>T, NM_018964.4:c.1062C>T, NM_018964.3:c.1062C>T, NM_001320537.2:c.1062C>T, NM_001320537.1:c.1062C>T, XM_011529614.4:c.1155C>T, XM_011529614.3:c.1155C>T, XM_011529614.2:c.1155C>T, XM_011529614.1:c.1155C>T, XM_011529615.3:c.1155C>T, XM_011529615.2:c.1155C>T, XM_011529615.1:c.1155C>T, XM_017028376.3:c.1155C>T, XM_017028376.2:c.1155C>T, XM_017028376.1:c.1155C>T, XM_017028379.2:c.1062C>T, XM_017028379.1:c.1062C>T, XM_017028377.2:c.1062C>T, XM_017028377.1:c.1062C>T, XM_017028381.2:c.1062C>T, XM_017028381.1:c.1062C>T, XM_017028380.2:c.1062C>T, XM_017028380.1:c.1062C>T, XM_017028383.2:c.1062C>T, XM_017028383.1:c.1062C>T, XM_047440843.1:c.1062C>T, XM_047440842.1:c.1062C>T, XM_047440845.1:c.1062C>T, XM_047440844.1:c.1062C>T, XM_047440849.1:c.1062C>T, XM_047440850.1:c.1062C>T, XM_047440846.1:c.1062C>T, XM_047440848.1:c.1062C>T, XM_047440847.1:c.1062C>T

                                        20.

                                        rs1464986009 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          21:42539570 (GRCh38)
                                          21:43959680 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:42539569:A:G,NC_000021.9:42539569:A:T
                                          Gene:
                                          SLC37A1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000021.9:g.42539570A>G, NC_000021.9:g.42539570A>T, NC_000021.8:g.43959680A>G, NC_000021.8:g.43959680A>T, NG_033931.1:g.44939A>G, NG_033931.1:g.44939A>T, NM_018964.4:c.409A>G, NM_018964.4:c.409A>T, NM_018964.3:c.409A>G, NM_018964.3:c.409A>T, NM_001320537.2:c.409A>G, NM_001320537.2:c.409A>T, NM_001320537.1:c.409A>G, NM_001320537.1:c.409A>T, XM_011529614.4:c.502A>G, XM_011529614.4:c.502A>T, XM_011529614.3:c.502A>G, XM_011529614.3:c.502A>T, XM_011529614.2:c.502A>G, XM_011529614.2:c.502A>T, XM_011529614.1:c.502A>G, XM_011529614.1:c.502A>T, XM_011529615.3:c.502A>G, XM_011529615.3:c.502A>T, XM_011529615.2:c.502A>G, XM_011529615.2:c.502A>T, XM_011529615.1:c.502A>G, XM_011529615.1:c.502A>T, XM_017028376.3:c.502A>G, XM_017028376.3:c.502A>T, XM_017028376.2:c.502A>G, XM_017028376.2:c.502A>T, XM_017028376.1:c.502A>G, XM_017028376.1:c.502A>T, XM_017028379.2:c.409A>G, XM_017028379.2:c.409A>T, XM_017028379.1:c.409A>G, XM_017028379.1:c.409A>T, XM_017028377.2:c.409A>G, XM_017028377.2:c.409A>T, XM_017028377.1:c.409A>G, XM_017028377.1:c.409A>T, XM_017028381.2:c.409A>G, XM_017028381.2:c.409A>T, XM_017028381.1:c.409A>G, XM_017028381.1:c.409A>T, XM_017028380.2:c.409A>G, XM_017028380.2:c.409A>T, XM_017028380.1:c.409A>G, XM_017028380.1:c.409A>T, XM_017028383.2:c.409A>G, XM_017028383.2:c.409A>T, XM_017028383.1:c.409A>G, XM_017028383.1:c.409A>T, XM_047440843.1:c.409A>G, XM_047440843.1:c.409A>T, XM_047440842.1:c.409A>G, XM_047440842.1:c.409A>T, XM_047440845.1:c.409A>G, XM_047440845.1:c.409A>T, XM_047440844.1:c.409A>G, XM_047440844.1:c.409A>T, XM_047440849.1:c.409A>G, XM_047440849.1:c.409A>T, XM_047440850.1:c.409A>G, XM_047440850.1:c.409A>T, XM_047440846.1:c.409A>G, XM_047440846.1:c.409A>T, XM_047440848.1:c.409A>G, XM_047440848.1:c.409A>T, XM_047440847.1:c.409A>G, XM_047440847.1:c.409A>T, NP_061837.3:p.Ser137Gly, NP_061837.3:p.Ser137Cys, NP_001307466.1:p.Ser137Gly, NP_001307466.1:p.Ser137Cys, XP_011527916.1:p.Ser168Gly, XP_011527916.1:p.Ser168Cys, XP_011527917.1:p.Ser168Gly, XP_011527917.1:p.Ser168Cys, XP_016883865.1:p.Ser168Gly, XP_016883865.1:p.Ser168Cys, XP_016883868.1:p.Ser137Gly, XP_016883868.1:p.Ser137Cys, XP_016883866.1:p.Ser137Gly, XP_016883866.1:p.Ser137Cys, XP_016883870.1:p.Ser137Gly, XP_016883870.1:p.Ser137Cys, XP_016883869.1:p.Ser137Gly, XP_016883869.1:p.Ser137Cys, XP_016883872.2:p.Ser137Gly, XP_016883872.2:p.Ser137Cys, XP_047296799.1:p.Ser137Gly, XP_047296799.1:p.Ser137Cys, XP_047296798.1:p.Ser137Gly, XP_047296798.1:p.Ser137Cys, XP_047296801.1:p.Ser137Gly, XP_047296801.1:p.Ser137Cys, XP_047296800.1:p.Ser137Gly, XP_047296800.1:p.Ser137Cys, XP_047296805.1:p.Ser137Gly, XP_047296805.1:p.Ser137Cys, XP_047296806.1:p.Ser137Gly, XP_047296806.1:p.Ser137Cys, XP_047296802.1:p.Ser137Gly, XP_047296802.1:p.Ser137Cys, XP_047296804.1:p.Ser137Gly, XP_047296804.1:p.Ser137Cys, XP_047296803.1:p.Ser137Gly, XP_047296803.1:p.Ser137Cys

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