{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397092699",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2169394[alleleid]",
        "alleleId": 2169394,
        "preferredName": "NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2103744",
        "RCV": [
          "RCV003022304"
        ],
        "variationId": 2103744
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88880929C>G?assembly=hg19",
        "id": "chr16:g.88880929C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88814521C>G?assembly=hg38",
        "id": "chr16:g.88814521C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2508281481",
        "rs": 2508281481
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88814521,
          "referenceAllele": "C",
          "start": 88814520
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88814521C>G",
        "CM000678.2:g.88814521C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 88880929,
          "referenceAllele": "C",
          "start": 88880928
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88880929C>G",
        "CM000678.1:g.88880929C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87408430,
          "referenceAllele": "C",
          "start": 87408429
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87408430C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "referenceAllele": "G",
          "start": 2413
        }
      ],
      "hgvs": [
        "NG_008013.1:g.2414G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47446,
          "referenceAllele": "G",
          "start": 47445
        }
      ],
      "hgvs": [
        "NG_008667.1:g.47446G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.1487G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Trp496Ser",
        "hgvsWellDefined": "ENSP00000268695.5:p.Trp496Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1487G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1487G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Trp496Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Trp496Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.1487G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Trp496Ser",
        "hgvsWellDefined": "ENSP00000268695.5:p.Trp496Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4896,
          "referenceAllele": "G",
          "start": 4895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4896G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.1168G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.1168G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.1606G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.1606G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204939",
      "coordinates": [
        {
          "allele": "C",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.1487G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Trp496Ser",
        "hgvsWellDefined": "NP_000503.1:p.Trp496Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.1505G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Trp502Ser",
        "hgvsWellDefined": "XP_005256359.1:p.Trp502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194164",
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "referenceAllele": "G",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.932G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Trp311Ser",
        "hgvsWellDefined": "NP_001310472.1:p.Trp311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580215198",
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "G",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.1505G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Trp502Ser",
        "hgvsWellDefined": "NP_001310473.1:p.Trp502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4468,
          "referenceAllele": "G",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.*2651G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:n.*2651G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4514,
          "referenceAllele": "G",
          "start": 4513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.*2651G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:n.*2651G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6838,
          "referenceAllele": "G",
          "start": 6837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.*2909G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:n.*2909G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4326,
          "referenceAllele": "G",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.*2651G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.*2651G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204939",
      "coordinates": [
        {
          "allele": "C",
          "end": 1557,
          "referenceAllele": "G",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.1487G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Trp496Ser",
        "hgvsWellDefined": "NP_000503.1:p.Trp496Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1487G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1487G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Trp496Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Trp496Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194164",
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.932G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Trp311Ser",
        "hgvsWellDefined": "NP_001310472.1:p.Trp311Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580215198",
      "coordinates": [
        {
          "allele": "C",
          "end": 1727,
          "referenceAllele": "G",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.1505G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Trp502Ser",
        "hgvsWellDefined": "NP_001310473.1:p.Trp502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}