{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7131283",
  "communityStandardTitle": [
    "NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409111[alleleid]",
        "alleleId": 409111,
        "preferredName": "NM_000359.3(TGM1):c.788G>A (p.Trp263Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419403",
        "RCV": [
          "RCV000483411",
          "RCV000669357",
          "RCV003230514"
        ],
        "variationId": 419403
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-24729234-C-T",
        "id": "14-24729234-C-T",
        "variant": "14:24729234 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24729234C>T?assembly=hg19",
        "id": "chr14:g.24729234C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24260028C>T?assembly=hg38",
        "id": "chr14:g.24260028C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367699137",
        "rs": 367699137
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24729234-C-T?dataset=gnomad_r2_1",
        "id": "14-24729234-C-T",
        "variant": "14:24729234 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24260028-C-T?dataset=gnomad_r3",
        "id": "14-24260028-C-T",
        "variant": "14:24260028 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24260028-C-T?dataset=gnomad_r4",
        "id": "14-24260028-C-T",
        "variant": "14:24260028 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 24260028,
          "referenceAllele": "C",
          "start": 24260027
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24260028C>T",
        "CM000676.2:g.24260028C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 24729234,
          "referenceAllele": "C",
          "start": 24729233
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24729234C>T",
        "CM000676.1:g.24729234C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23799074,
          "referenceAllele": "C",
          "start": 23799073
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23799074C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8139,
          "referenceAllele": "G",
          "start": 8138
        }
      ],
      "hgvs": [
        "NG_007150.1:g.8139G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8139,
          "referenceAllele": "G",
          "start": 8138
        }
      ],
      "hgvs": [
        "NG_007150.2:g.8139G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000206765.11:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206765.6:p.Trp263Ter",
        "hgvsWellDefined": "ENSP00000206765.6:p.Trp263_Ala817delinsArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206765.11:c.788G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000359.3:c.788G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206765.6:p.Trp263Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000350.1:p.Trp263Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000206765.10:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206765.6:p.Trp263Ter",
        "hgvsWellDefined": "ENSP00000206765.6:p.Trp263_Ala817delinsArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 1639,
          "referenceAllele": "G",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000544573.5:c.-28-1640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439446.1:n.-28-1640G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "referenceAllele": "G",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000559136.1:c.-140G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453337.1:n.-140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417413",
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NM_000359.2:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000350.1:p.Trp263Ter",
        "hgvsWellDefined": "NP_000350.1:p.Trp263_Ala817delinsArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417413",
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NM_000359.3:c.788G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000350.1:p.Trp263Ter",
        "hgvsWellDefined": "NP_000350.1:p.Trp263_Ala817delinsArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662415",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206765.11:c.788G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000359.3:c.788G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206765.6:p.Trp263Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000350.1:p.Trp263Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}