{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371892553",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.1092G>C (p.Trp364Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.118847755C>G?assembly=hg19",
        "id": "chr8:g.118847755C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.117835516C>G?assembly=hg38",
        "id": "chr8:g.117835516C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 117835516,
          "referenceAllele": "C",
          "start": 117835515
        }
      ],
      "hgvs": [
        "NC_000008.11:g.117835516C>G",
        "CM000670.2:g.117835516C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 118847755,
          "referenceAllele": "C",
          "start": 118847754
        }
      ],
      "hgvs": [
        "NC_000008.10:g.118847755C>G",
        "CM000670.1:g.118847755C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 118916936,
          "referenceAllele": "C",
          "start": 118916935
        }
      ],
      "hgvs": [
        "NC_000008.9:g.118916936C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281304,
          "referenceAllele": "G",
          "start": 281303
        }
      ],
      "hgvs": [
        "NG_007455.2:g.281304G>C",
        "LRG_493:g.281304G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000684189.1:n.559G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.7:c.1092G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.3:p.Trp364Cys",
        "hgvsWellDefined": "ENSP00000367446.3:p.Trp364Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.1092G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.1092G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Trp364Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Trp364Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000436216.2:c.460G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.6:c.1092G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.2:p.Trp364Cys",
        "hgvsWellDefined": "ENSP00000367446.2:p.Trp364Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "G",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000436216.1:c.460G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.109G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:p.Gly37Arg",
        "hgvsWellDefined": "ENSP00000407299.1:p.Gly37Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1865,
          "referenceAllele": "G",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.1092G>C",
        "LRG_493t1:c.1092G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Trp364Cys",
        "hgvsWellDefined": "NP_000118.2:p.Trp364Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.1092G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Trp364Cys",
        "hgvsWellDefined": "NP_000118.2:p.Trp364Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.1092G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.1092G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Trp364Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Trp364Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}