{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371915688",
  "communityStandardTitle": [
    "NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2187426[alleleid]",
        "alleleId": 2187426,
        "preferredName": "NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2130298",
        "RCV": [
          "RCV003050438"
        ],
        "variationId": 2130298
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.119122776A>C?assembly=hg19",
        "id": "chr8:g.119122776A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.118110537A>C?assembly=hg38",
        "id": "chr8:g.118110537A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2488051750",
        "rs": 2488051750
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 118110537,
          "referenceAllele": "A",
          "start": 118110536
        }
      ],
      "hgvs": [
        "NC_000008.11:g.118110537A>C",
        "CM000670.2:g.118110537A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 119122776,
          "referenceAllele": "A",
          "start": 119122775
        }
      ],
      "hgvs": [
        "NC_000008.10:g.119122776A>C",
        "CM000670.1:g.119122776A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 119191957,
          "referenceAllele": "A",
          "start": 119191956
        }
      ],
      "hgvs": [
        "NC_000008.9:g.119191957A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6283,
          "referenceAllele": "T",
          "start": 6282
        }
      ],
      "hgvs": [
        "NG_007455.2:g.6283T>G",
        "LRG_493:g.6283T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "T",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.7:c.510T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.3:p.Tyr170Ter",
        "hgvsWellDefined": "ENSP00000367446.3:p.Tyr170_Leu746delinsValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.510T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.510T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Tyr170Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Tyr170Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1317,
          "referenceAllele": "T",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000378204.6:c.510T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367446.2:p.Tyr170Ter",
        "hgvsWellDefined": "ENSP00000367446.2:p.Tyr170_Leu746delinsValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 437,
          "referenceAllele": "T",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "ENST00000437196.1:c.73+437T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407299.1:n.73+437T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580104804",
      "coordinates": [
        {
          "allele": "G",
          "end": 1283,
          "referenceAllele": "T",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.2:c.510T>G",
        "LRG_493t1:c.510T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Tyr170Ter",
        "hgvsWellDefined": "NP_000118.2:p.Tyr170_Leu746delinsValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580104804",
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "T",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NM_000127.3:c.510T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000118.2:p.Tyr170Ter",
        "hgvsWellDefined": "NP_000118.2:p.Tyr170_Leu746delinsValHisAsnLeuArgSerLysValGlnSerLeuHisLeuTrpAsnAsnGlyArgAsnHisLeuIlePheAsnLeuTyrSerGlyThrTrpProAspTyrThrGluAspValGlyPheAspIleGlyGlnAlaMetLeuAlaLysAlaSerIleSerThrGluAsnPheArgProAsnPheAspValSerIleProLeuPheSerLysAspHisProArgThrGlyGlyGluArgGlyPheLeuLysPheAsnThrIleProProLeuArgLysTyrMetLeuValPheLysGlyLysArgTyrLeuThrGlyIleGlySerAspThrArgAsnAlaLeuTyrHisValHisAsnGlyGluAspValValLeuLeuThrThrCysLysHisGlyLysAspTrpGlnLysHisLysAspSerArgCysAspArgAspAsnThrGluTyrGluLysTyrAspTyrArgGluMetLeuHisAsnAlaThrPheCysLeuValProArgGlyArgArgLeuGlySerPheArgPheLeuGluAlaLeuGlnAlaAlaCysValProValMetLeuSerAsnGlyTrpGluLeuProPheSerGluValIleAsnTrpAsnGlnAlaAlaValIleGlyAspGluArgLeuLeuLeuGlnIleProSerThrIleArgSerIleHisGlnAspLysIleLeuAlaLeuArgGlnGlnThrGlnPheLeuTrpGluAlaTyrPheSerSerValGluLysIleValLeuThrThrLeuGluIleIleGlnAspArgIlePheLysHisIleSerArgAsnSerLeuIleTrpAsnLysHisProGlyGlyLeuPheValLeuProGlnTyrSerSerTyrLeuGlyAspPheProTyrTyrTyrAlaAsnLeuGlyLeuLysProProSerLysPheThrAlaValIleHisAlaValThrProLeuValSerGlnSerGlnProValLeuLysLeuLeuValAlaAlaAlaLysSerGlnTyrCysAlaGlnIleIleValLeuTrpAsnCysAspLysProLeuProAlaLysHisArgTrpProAlaThrAlaValProValValValIleGluGlyGluSerLysValMetSerSerArgPheLeuProTyrAspAsnIleIleThrAspAlaValLeuSerLeuAspGluAspThrValLeuSerThrThrGluValAspPheAlaPheThrValTrpGlnSerPheProGluArgIleValGlyTyrProAlaArgSerHisPheTrpAspAsnSerLysGluArgTrpGlyTyrThrSerLysTrpThrAsnAspTyrSerMetValLeuThrGlyAlaAlaIleTyrHisLysTyrTyrHisTyrLeuTyrSerHisTyrLeuProAlaSerLeuLysAsnMetValAspGlnLeuAlaAsnCysGluAspIleLeuMetAsnPheLeuValSerAlaValThrLysLeuProProIleLysValThrGlnLysLysGlnTyrLysGluThrMetMetGlyGlnThrSerArgAlaSerArgTrpAlaAspProAspHisPheAlaGlnArgGlnSerCysMetAsnThrPheAlaSerTrpPheGlyTyrMetProLeuIleHisSerGlnMetArgLeuAspProValLeuPheLysAspGlnValSerIleLeuArgLysLysTyrArgAspIleGluArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378204.7:c.510T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000127.3:c.510T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367446.3:p.Tyr170Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000118.2:p.Tyr170Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}