{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397076672",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671794[alleleid]",
        "alleleId": 1671794,
        "preferredName": "NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679877",
        "RCV": [
          "RCV002227893"
        ],
        "variationId": 1679877
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88901728C>T?assembly=hg19",
        "id": "chr16:g.88901728C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88835320C>T?assembly=hg38",
        "id": "chr16:g.88835320C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143001182",
        "rs": 2143001182
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88835320,
          "referenceAllele": "C",
          "start": 88835319
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88835320C>T",
        "CM000678.2:g.88835320C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 88901728,
          "referenceAllele": "C",
          "start": 88901727
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88901728C>T",
        "CM000678.1:g.88901728C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87429229,
          "referenceAllele": "C",
          "start": 87429228
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87429229C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26647,
          "referenceAllele": "G",
          "start": 26646
        }
      ],
      "hgvs": [
        "NG_008667.1:g.26647G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Ser264Asn",
        "hgvsWellDefined": "ENSP00000268695.5:p.Ser264Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.791G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.791G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Ser264Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Ser264Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Ser264Asn",
        "hgvsWellDefined": "ENSP00000268695.5:p.Ser264Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4200,
          "referenceAllele": "G",
          "start": 4199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.379G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.472G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.472G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "referenceAllele": "G",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.910G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.910G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204610",
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Ser264Asn",
        "hgvsWellDefined": "NP_000503.1:p.Ser264Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Ser264Asn",
        "hgvsWellDefined": "XP_005256358.1:p.Ser264Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Ser270Asn",
        "hgvsWellDefined": "XP_005256359.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Ser270Asn",
        "hgvsWellDefined": "XP_011521284.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Ser270Asn",
        "hgvsWellDefined": "XP_011521286.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573199963",
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Ser79Asn",
        "hgvsWellDefined": "NP_001310472.1:p.Ser79Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194366",
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Ser270Asn",
        "hgvsWellDefined": "NP_001310473.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Ser264Asn",
        "hgvsWellDefined": "XP_005256358.1:p.Ser264Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Ser270Asn",
        "hgvsWellDefined": "XP_011521284.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3211,
          "referenceAllele": "G",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Ser270Asn",
        "hgvsWellDefined": "XP_016878600.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3211,
          "referenceAllele": "G",
          "start": 3210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Ser270Asn",
        "hgvsWellDefined": "XP_016878601.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:p.Ser79Asn",
        "hgvsWellDefined": "XP_016878602.1:p.Ser79Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204610",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.791G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Ser264Asn",
        "hgvsWellDefined": "NP_000503.1:p.Ser264Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.791G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.791G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Ser264Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Ser264Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573199963",
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Ser79Asn",
        "hgvsWellDefined": "NP_001310472.1:p.Ser79Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194366",
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.809G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Ser270Asn",
        "hgvsWellDefined": "NP_001310473.1:p.Ser270Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}