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Links from Protein

Items: 1 to 20 of 138

1.

rs1491349217 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GC>- [Show Flanks]
    Chromosome:
    1:76868604 (GRCh38)
    1:77334289 (GRCh37)
    Canonical SPDI:
    NC_000001.11:76868603:GC:
    Gene:
    ST6GALNAC5 (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.000008/2 (GnomAD_exomes)
    -=0.00001/1 (ExAC)
    -=0.000022/3 (GnomAD)
    HGVS:
    2.
    3.

    rs1477411884 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      1:76868624 (GRCh38)
      1:77334309 (GRCh37)
      Canonical SPDI:
      NC_000001.11:76868623:A:C
      Gene:
      ST6GALNAC5 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      4.

      rs1467851529 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:77050264 (GRCh38)
        1:77515949 (GRCh37)
        Canonical SPDI:
        NC_000001.11:77050263:A:G
        Gene:
        ST6GALNAC5 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant
        HGVS:
        5.

        rs1465765761 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          1:76868534 (GRCh38)
          1:77334219 (GRCh37)
          Canonical SPDI:
          NC_000001.11:76868533:T:C
          Gene:
          ST6GALNAC5 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          6.
          7.

          rs1463219523 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:76868553 (GRCh38)
            1:77334238 (GRCh37)
            Canonical SPDI:
            NC_000001.11:76868552:A:G
            Gene:
            ST6GALNAC5 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            HGVS:
            8.

            rs1455069075 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CAGCAGCAGCAACAGCAGCAGCAG>- [Show Flanks]
              Chromosome:
              1:76868605 (GRCh38)
              1:77334290 (GRCh37)
              Canonical SPDI:
              NC_000001.11:76868592:CAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAG:CAGCAGCAGCAG
              Gene:
              ST6GALNAC5 (Varview)
              Functional Consequence:
              coding_sequence_variant,inframe_deletion
              Validated:
              by frequency,by alfa
              MAF:
              CAGCAGCAGCAG=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              9.

              rs1450489334 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:76868596 (GRCh38)
                1:77334281 (GRCh37)
                Canonical SPDI:
                NC_000001.11:76868595:C:A
                Gene:
                ST6GALNAC5 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                10.

                rs1420201771 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  1:77050295 (GRCh38)
                  1:77515980 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:77050294:A:T
                  Gene:
                  ST6GALNAC5 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  HGVS:
                  11.

                  rs1413781333 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:77050294 (GRCh38)
                    1:77515979 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:77050293:T:C
                    Gene:
                    ST6GALNAC5 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    12.

                    rs1411053777 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:76868505 (GRCh38)
                      1:77334190 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:76868504:T:C
                      Gene:
                      ST6GALNAC5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      13.

                      rs1403937956 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        1:76868640 (GRCh38)
                        1:77334325 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:76868639:C:A
                        Gene:
                        ST6GALNAC5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        14.

                        rs1401847776 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          1:76868730 (GRCh38)
                          1:77334415 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:76868729:G:A,NC_000001.11:76868729:G:T
                          Gene:
                          ST6GALNAC5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          A=0.00001/1 (GnomAD_exomes)
                          HGVS:
                          15.

                          rs1388705976 has merged into rs113832855 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GCAGCAGCAGCAGCAGCAGCA>-,GCAGCAGCA,GCAGCAGCAGCA,GCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA [Show Flanks]
                            Chromosome:
                            1:76868595 (GRCh38)
                            1:77334280 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,NC_000001.11:76868591:GCAGCAGCAGCAGCAGCAGCAGCA:GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA
                            Gene:
                            ST6GALNAC5 (Varview)
                            Functional Consequence:
                            inframe_insertion,coding_sequence_variant,inframe_deletion
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA=0./0 (ALFA)
                            GCA=0.00167/1 (NorthernSweden)
                            HGVS:
                            NC_000001.11:g.76868592GCA[1], NC_000001.11:g.76868592GCA[4], NC_000001.11:g.76868592GCA[5], NC_000001.11:g.76868592GCA[6], NC_000001.11:g.76868592GCA[7], NC_000001.11:g.76868592GCA[9], NC_000001.11:g.76868592GCA[10], NC_000001.11:g.76868592GCA[11], NC_000001.11:g.76868592GCA[12], NC_000001.11:g.76868592GCA[13], NC_000001.10:g.77334277GCA[1], NC_000001.10:g.77334277GCA[4], NC_000001.10:g.77334277GCA[5], NC_000001.10:g.77334277GCA[6], NC_000001.10:g.77334277GCA[7], NC_000001.10:g.77334277GCA[9], NC_000001.10:g.77334277GCA[10], NC_000001.10:g.77334277GCA[11], NC_000001.10:g.77334277GCA[12], NC_000001.10:g.77334277GCA[13], NM_030965.3:c.111GCA[1], NM_030965.3:c.111GCA[4], NM_030965.3:c.111GCA[5], NM_030965.3:c.111GCA[6], NM_030965.3:c.111GCA[7], NM_030965.3:c.111GCA[9], NM_030965.3:c.111GCA[10], NM_030965.3:c.111GCA[11], NM_030965.3:c.111GCA[12], NM_030965.3:c.111GCA[13], NM_030965.2:c.111GCA[1], NM_030965.2:c.111GCA[4], NM_030965.2:c.111GCA[5], NM_030965.2:c.111GCA[6], NM_030965.2:c.111GCA[7], NM_030965.2:c.111GCA[9], NM_030965.2:c.111GCA[10], NM_030965.2:c.111GCA[11], NM_030965.2:c.111GCA[12], NM_030965.2:c.111GCA[13], NM_030965.1:c.111GCA[1], NM_030965.1:c.111GCA[4], NM_030965.1:c.111GCA[5], NM_030965.1:c.111GCA[6], NM_030965.1:c.111GCA[7], NM_030965.1:c.111GCA[9], NM_030965.1:c.111GCA[10], NM_030965.1:c.111GCA[11], NM_030965.1:c.111GCA[12], NM_030965.1:c.111GCA[13], NM_001320273.2:c.111GCA[1], NM_001320273.2:c.111GCA[4], NM_001320273.2:c.111GCA[5], NM_001320273.2:c.111GCA[6], NM_001320273.2:c.111GCA[7], NM_001320273.2:c.111GCA[9], NM_001320273.2:c.111GCA[10], NM_001320273.2:c.111GCA[11], NM_001320273.2:c.111GCA[12], NM_001320273.2:c.111GCA[13], NM_001320273.1:c.111GCA[1], NM_001320273.1:c.111GCA[4], NM_001320273.1:c.111GCA[5], NM_001320273.1:c.111GCA[6], NM_001320273.1:c.111GCA[7], NM_001320273.1:c.111GCA[9], NM_001320273.1:c.111GCA[10], NM_001320273.1:c.111GCA[11], NM_001320273.1:c.111GCA[12], NM_001320273.1:c.111GCA[13], NM_001320274.2:c.111GCA[1], NM_001320274.2:c.111GCA[4], NM_001320274.2:c.111GCA[5], NM_001320274.2:c.111GCA[6], NM_001320274.2:c.111GCA[7], NM_001320274.2:c.111GCA[9], NM_001320274.2:c.111GCA[10], NM_001320274.2:c.111GCA[11], NM_001320274.2:c.111GCA[12], NM_001320274.2:c.111GCA[13], NM_001320274.1:c.111GCA[1], NM_001320274.1:c.111GCA[4], NM_001320274.1:c.111GCA[5], NM_001320274.1:c.111GCA[6], NM_001320274.1:c.111GCA[7], NM_001320274.1:c.111GCA[9], NM_001320274.1:c.111GCA[10], NM_001320274.1:c.111GCA[11], NM_001320274.1:c.111GCA[12], NM_001320274.1:c.111GCA[13], NP_112227.1:p.Gln43_Gln49del, NP_112227.1:p.Gln46_Gln49del, NP_112227.1:p.Gln47_Gln49del, NP_112227.1:p.Gln48_Gln49del, NP_112227.1:p.Gln49del, NP_112227.1:p.Gln49dup, NP_112227.1:p.Gln48_Gln49dup, NP_112227.1:p.Gln47_Gln49dup, NP_112227.1:p.Gln46_Gln49dup, NP_112227.1:p.Gln45_Gln49dup, NP_001307202.1:p.Gln43_Gln49del, NP_001307202.1:p.Gln46_Gln49del, NP_001307202.1:p.Gln47_Gln49del, NP_001307202.1:p.Gln48_Gln49del, NP_001307202.1:p.Gln49del, NP_001307202.1:p.Gln49dup, NP_001307202.1:p.Gln48_Gln49dup, NP_001307202.1:p.Gln47_Gln49dup, NP_001307202.1:p.Gln46_Gln49dup, NP_001307202.1:p.Gln45_Gln49dup, NP_001307203.1:p.Gln43_Gln49del, NP_001307203.1:p.Gln46_Gln49del, NP_001307203.1:p.Gln47_Gln49del, NP_001307203.1:p.Gln48_Gln49del, NP_001307203.1:p.Gln49del, NP_001307203.1:p.Gln49dup, NP_001307203.1:p.Gln48_Gln49dup, NP_001307203.1:p.Gln47_Gln49dup, NP_001307203.1:p.Gln46_Gln49dup, NP_001307203.1:p.Gln45_Gln49dup
                            16.

                            rs1385963431 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:76868656 (GRCh38)
                              1:77334341 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:76868655:G:A
                              Gene:
                              ST6GALNAC5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              HGVS:
                              17.

                              rs1364171843 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                1:76867690 (GRCh38)
                                1:77333375 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:76867689:G:T
                                Gene:
                                ST6GALNAC5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                18.

                                rs1363870470 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  1:76868627 (GRCh38)
                                  1:77334312 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:76868626:A:C
                                  Gene:
                                  ST6GALNAC5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  19.
                                  20.

                                  rs1311947265 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:76868581 (GRCh38)
                                    1:77334266 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:76868580:G:A
                                    Gene:
                                    ST6GALNAC5 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:

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