{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA462464890",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.2043A>T (p.Thr681=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1521674[alleleid]",
        "alleleId": 1521674,
        "preferredName": "NM_000127.3(EXT1):c.2043A>T (p.Thr681=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1553494",
        "RCV": [
          "RCV002199405"
        ],
        "variationId": 1553494
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.118816973T>A?assembly=hg19",
        "id": "chr8:g.118816973T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746481404",
        "rs": 746481404
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 117804734,
          "referenceAllele": "T",
          "start": 117804733
        }
      ],
      "hgvs": [
        "NC_000008.11:g.117804734T>A",
        "CM000670.2:g.117804734T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 118816973,
          "referenceAllele": "T",
          "start": 118816972
        }
      ],
      "hgvs": [
        "NC_000008.10:g.118816973T>A",
        "CM000670.1:g.118816973T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 118886154,
          "referenceAllele": "T",
          "start": 118886153
        }
      ],
      "hgvs": [
        "NC_000008.9:g.118886154T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312086,
          "referenceAllele": "A",
          "start": 312085
        }
      ],
      "hgvs": [
        "NG_007455.2:g.312086A>T",
        "LRG_493:g.312086A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "A",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000684189.1:n.1510A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "A",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000684443.1:n.2169A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2823,
          "referenceAllele": "A",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.7:c.2043A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.3:p.Thr681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.2043A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.2043A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Thr681="
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Thr681="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2850,
          "referenceAllele": "A",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.6:c.2043A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.2:p.Thr681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "A",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.*934A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:n.*934A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825048501",
      "coordinates": [
        {
          "allele": "T",
          "end": 2816,
          "referenceAllele": "A",
          "start": 2815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.2043A>T",
        "LRG_493t1:c.2043A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Thr681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825048501",
      "coordinates": [
        {
          "allele": "T",
          "end": 2823,
          "referenceAllele": "A",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.2043A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Thr681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.2043A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.2043A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Thr681="
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Thr681="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}