{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371915512",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.584T>G (p.Leu195Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=636573[alleleid]",
        "alleleId": 636573,
        "preferredName": "NM_000127.3(EXT1):c.584T>G (p.Leu195Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644357",
        "RCV": [
          "RCV000798252"
        ],
        "variationId": 644357
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.119122702A>C?assembly=hg19",
        "id": "chr8:g.119122702A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.118110463A>C?assembly=hg38",
        "id": "chr8:g.118110463A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1586279621",
        "rs": 1586279621
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 118110463,
          "referenceAllele": "A",
          "start": 118110462
        }
      ],
      "hgvs": [
        "NC_000008.11:g.118110463A>C",
        "CM000670.2:g.118110463A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 119122702,
          "referenceAllele": "A",
          "start": 119122701
        }
      ],
      "hgvs": [
        "NC_000008.10:g.119122702A>C",
        "CM000670.1:g.119122702A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 119191883,
          "referenceAllele": "A",
          "start": 119191882
        }
      ],
      "hgvs": [
        "NC_000008.9:g.119191883A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6357,
          "referenceAllele": "T",
          "start": 6356
        }
      ],
      "hgvs": [
        "NG_007455.2:g.6357T>G",
        "LRG_493:g.6357T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "T",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.7:c.584T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.3:p.Leu195Ter",
        "hgvsWellDefined": "ENSP00000367446.3:p.Leu195_Leu746delinsTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.584T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.584T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Leu195Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Leu195Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "referenceAllele": "T",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.6:c.584T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.2:p.Leu195Ter",
        "hgvsWellDefined": "ENSP00000367446.2:p.Leu195_Leu746delinsTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 511,
          "referenceAllele": "T",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.73+511T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:n.73+511T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957906",
      "coordinates": [
        {
          "allele": "G",
          "end": 1357,
          "referenceAllele": "T",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.584T>G",
        "LRG_493t1:c.584T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Leu195Ter",
        "hgvsWellDefined": "NP_000118.2:p.Leu195_Leu746delinsTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957906",
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "T",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.584T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Leu195Ter",
        "hgvsWellDefined": "NP_000118.2:p.Leu195_Leu746delinsTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.584T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.584T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Leu195Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Leu195Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}