{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371885179",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=945836[alleleid]",
        "alleleId": 945836,
        "preferredName": "NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/963325",
        "RCV": [
          "RCV001237335",
          "RCV003313999"
        ],
        "variationId": 963325
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.118831974G>A?assembly=hg19",
        "id": "chr8:g.118831974G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.117819735G>A?assembly=hg38",
        "id": "chr8:g.117819735G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1811890821",
        "rs": 1811890821
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 117819735,
          "referenceAllele": "G",
          "start": 117819734
        }
      ],
      "hgvs": [
        "NC_000008.11:g.117819735G>A",
        "CM000670.2:g.117819735G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 118831974,
          "referenceAllele": "G",
          "start": 118831973
        }
      ],
      "hgvs": [
        "NC_000008.10:g.118831974G>A",
        "CM000670.1:g.118831974G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 118901155,
          "referenceAllele": "G",
          "start": 118901154
        }
      ],
      "hgvs": [
        "NC_000008.9:g.118901155G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297085,
          "referenceAllele": "C",
          "start": 297084
        }
      ],
      "hgvs": [
        "NG_007455.2:g.297085C>T",
        "LRG_493:g.297085C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 944,
          "referenceAllele": "C",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000684189.1:n.944C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2257,
          "referenceAllele": "C",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.7:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.3:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000367446.3:p.Gln493_Leu746delinsSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.1477C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.1477C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Gln493Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Gln493Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.6:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.2:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000367446.2:p.Gln493_Leu746delinsSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.*368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:n.*368C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669106",
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "C",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.1477C>T",
        "LRG_493t1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Gln493Ter",
        "hgvsWellDefined": "NP_000118.2:p.Gln493_Leu746delinsSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669106",
      "coordinates": [
        {
          "allele": "T",
          "end": 2257,
          "referenceAllele": "C",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Gln493Ter",
        "hgvsWellDefined": "NP_000118.2:p.Gln493_Leu746delinsSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.1477C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.1477C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Gln493Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Gln493Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}