{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221063",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6374414",
        "active": true,
        "id": "COSM6374414"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15747[alleleid]",
        "alleleId": 15747,
        "preferredName": "NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/708",
        "RCV": [
          "RCV000000743",
          "RCV000781400",
          "RCV000790840"
        ],
        "variationId": 708
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-88898507-C-A",
        "id": "16-88898507-C-A",
        "variant": "16:88898507 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88898507C>A?assembly=hg19",
        "id": "chr16:g.88898507C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88832099C>A?assembly=hg38",
        "id": "chr16:g.88832099C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204443",
        "rs": 118204443
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88898507-C-A?dataset=gnomad_r2_1",
        "id": "16-88898507-C-A",
        "variant": "16:88898507 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88832099-C-A?dataset=gnomad_r3",
        "id": "16-88832099-C-A",
        "variant": "16:88832099 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88832099-C-A?dataset=gnomad_r4",
        "id": "16-88832099-C-A",
        "variant": "16:88832099 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88832099,
          "referenceAllele": "C",
          "start": 88832098
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88832099C>A",
        "CM000678.2:g.88832099C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88898507,
          "referenceAllele": "C",
          "start": 88898506
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88898507C>A",
        "CM000678.1:g.88898507C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87426008,
          "referenceAllele": "C",
          "start": 87426007
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87426008C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29868,
          "referenceAllele": "G",
          "start": 29867
        }
      ],
      "hgvs": [
        "NG_008667.1:g.29868G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001157"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.10:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Gly301Cys",
        "hgvsWellDefined": "ENSP00000268695.5:p.Gly301Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.901G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.901G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Gly301Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Gly301Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000268695.9:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268695.5:p.Gly301Cys",
        "hgvsWellDefined": "ENSP00000268695.5:p.Gly301Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4310,
          "referenceAllele": "G",
          "start": 4309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562593.5:n.4310G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000562931.5:n.489G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000567525.5:c.582G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454484.1:n.582G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "G",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "ENST00000568613.5:c.1020G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457921.1:n.1020G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380908"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098082",
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.4:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Gly301Cys",
        "hgvsWellDefined": "NP_000503.1:p.Gly301Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.2:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Gly301Cys",
        "hgvsWellDefined": "XP_005256358.1:p.Gly301Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256302.1:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256359.1:p.Gly307Cys",
        "hgvsWellDefined": "XP_005256359.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.1:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Gly307Cys",
        "hgvsWellDefined": "XP_011521284.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522984.1:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Gly307Cys",
        "hgvsWellDefined": "XP_011521286.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827193920",
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.346G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Gly116Cys",
        "hgvsWellDefined": "NP_001310472.1:p.Gly116Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026913",
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Gly307Cys",
        "hgvsWellDefined": "NP_001310473.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 990,
          "referenceAllele": "G",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Gly301Cys",
        "hgvsWellDefined": "XP_005256358.1:p.Gly301Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Gly307Cys",
        "hgvsWellDefined": "XP_011521284.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Gly307Cys",
        "hgvsWellDefined": "XP_016878600.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3321,
          "referenceAllele": "G",
          "start": 3320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Gly307Cys",
        "hgvsWellDefined": "XP_016878601.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "G",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.346G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:p.Gly116Cys",
        "hgvsWellDefined": "XP_016878602.1:p.Gly116Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098082",
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "G",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Gly301Cys",
        "hgvsWellDefined": "NP_000503.1:p.Gly301Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.901G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.901G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Gly301Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Gly301Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827193920",
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.346G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Gly116Cys",
        "hgvsWellDefined": "NP_001310472.1:p.Gly116Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026913",
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.919G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Gly307Cys",
        "hgvsWellDefined": "NP_001310473.1:p.Gly307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}