{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9731788",
  "communityStandardTitle": [
    "NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=430295[alleleid]",
        "alleleId": 430295,
        "preferredName": "NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/437001",
        "RCV": [
          "RCV000500182",
          "RCV000713843",
          "RCV000850333",
          "RCV001849183"
        ],
        "variationId": 437001
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-2380225-C-T",
        "id": "20-2380225-C-T",
        "variant": "20:2380225 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2380225C>T?assembly=hg19",
        "id": "chr20:g.2380225C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2399579C>T?assembly=hg38",
        "id": "chr20:g.2399579C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201338900",
        "rs": 201338900
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2380225-C-T?dataset=gnomad_r2_1",
        "id": "20-2380225-C-T",
        "variant": "20:2380225 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2399579-C-T?dataset=gnomad_r3",
        "id": "20-2399579-C-T",
        "variant": "20:2399579 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2399579-C-T?dataset=gnomad_r4",
        "id": "20-2399579-C-T",
        "variant": "20:2399579 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 2399579,
          "referenceAllele": "C",
          "start": 2399578
        }
      ],
      "hgvs": [
        "NC_000020.11:g.2399579C>T",
        "CM000682.2:g.2399579C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 2380225,
          "referenceAllele": "C",
          "start": 2380224
        }
      ],
      "hgvs": [
        "NC_000020.10:g.2380225C>T",
        "CM000682.1:g.2380225C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 2328225,
          "referenceAllele": "C",
          "start": 2328224
        }
      ],
      "hgvs": [
        "NC_000020.9:g.2328225C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23672,
          "referenceAllele": "C",
          "start": 23671
        }
      ],
      "hgvs": [
        "NG_031917.1:g.23672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005028"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000202625.7:c.691C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000202625.7:c.691C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198994.3:c.691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000202625.2:p.Arg231Ter"
          },
          "RefSeq": {
            "hgvs": "NP_945345.2:p.Arg231Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000202625.6:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000202625.2:p.Arg231Ter",
        "hgvsWellDefined": "ENSP00000202625.2:p.Arg231_Lys706delinsGlyValValGlnGlyGlnTrpGlnGlyLysTyrGlyGlyGlyThrSerProLeuHisTrpArgGlySerValAlaIleLeuGlnLysTrpLeuLysGlyArgTyrLysProValLysTyrGlyGlnCysTrpValPheAlaGlyValLeuCysThrValLeuArgCysLeuGlyIleAlaThrArgValValSerAsnPheAsnSerAlaHisAspThrAspGlnAsnLeuSerValAspLysTyrValAspSerPheGlyArgThrLeuGluAspLeuThrGluAspSerMetTrpAsnPheHisValTrpAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000381423.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370831.1:p.Arg231Ter",
        "hgvsWellDefined": "ENSP00000370831.1:p.Arg231_Val625delinsGlyValValGlnGlyGlnTrpGlnGlyLysTyrGlyGlyGlyThrSerProLeuHisTrpArgGlySerValAlaIleLeuGlnLysTrpLeuLysGlyArgTyrLysProValLysTyrGlyGlnCysTrpValPheAlaGlyValLeuCysThrValLeuArgCysLeuGlyIleAlaThrArgValValSerAsnPheAsnSerAlaHisAspThrAspGlnAsnLeuSerValAspLysTyrValAspSerPheGlyArgThrLeuGluAspLeuThrGluAspSerMetTrpAsnPheHisValTrpAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysArgAlaTyrProGlyAlaSerGlyGluGlyLeuSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000477505.1:n.322C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365465",
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_001254734.1:c.691C>T"
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      "proteinEffect": {
        "hgvs": "NP_001241663.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_001241663.1:p.Arg231_Val625delinsGlyValValGlnGlyGlnTrpGlnGlyLysTyrGlyGlyGlyThrSerProLeuHisTrpArgGlySerValAlaIleLeuGlnLysTrpLeuLysGlyArgTyrLysProValLysTyrGlyGlnCysTrpValPheAlaGlyValLeuCysThrValLeuArgCysLeuGlyIleAlaThrArgValValSerAsnPheAsnSerAlaHisAspThrAspGlnAsnLeuSerValAspLysTyrValAspSerPheGlyArgThrLeuGluAspLeuThrGluAspSerMetTrpAsnPheHisValTrpAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysArgAlaTyrProGlyAlaSerGlyGluGlyLeuSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391748",
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_198994.2:c.691C>T"
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      "proteinEffect": {
        "hgvs": "NP_945345.2:p.Arg231Ter",
        "hgvsWellDefined": "NP_945345.2:p.Arg231_Lys706delinsGlyValValGlnGlyGlnTrpGlnGlyLysTyrGlyGlyGlyThrSerProLeuHisTrpArgGlySerValAlaIleLeuGlnLysTrpLeuLysGlyArgTyrLysProValLysTyrGlyGlnCysTrpValPheAlaGlyValLeuCysThrValLeuArgCysLeuGlyIleAlaThrArgValValSerAsnPheAsnSerAlaHisAspThrAspGlnAsnLeuSerValAspLysTyrValAspSerPheGlyArgThrLeuGluAspLeuThrGluAspSerMetTrpAsnPheHisValTrpAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365465",
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_001254734.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241663.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_001241663.1:p.Arg231_Val625delinsGlyValValGlnGlyGlnTrpGlnGlyLysTyrGlyGlyGlyThrSerProLeuHisTrpArgGlySerValAlaIleLeuGlnLysTrpLeuLysGlyArgTyrLysProValLysTyrGlyGlnCysTrpValPheAlaGlyValLeuCysThrValLeuArgCysLeuGlyIleAlaThrArgValValSerAsnPheAsnSerAlaHisAspThrAspGlnAsnLeuSerValAspLysTyrValAspSerPheGlyArgThrLeuGluAspLeuThrGluAspSerMetTrpAsnPheHisValTrpAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysArgAlaTyrProGlyAlaSerGlyGluGlyLeuSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645391748",
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_198994.3:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_945345.2:p.Arg231Ter",
        "hgvsWellDefined": "NP_945345.2:p.Arg231_Lys706delinsGlyValValGlnGlyGlnTrpGlnGlyLysTyrGlyGlyGlyThrSerProLeuHisTrpArgGlySerValAlaIleLeuGlnLysTrpLeuLysGlyArgTyrLysProValLysTyrGlyGlnCysTrpValPheAlaGlyValLeuCysThrValLeuArgCysLeuGlyIleAlaThrArgValValSerAsnPheAsnSerAlaHisAspThrAspGlnAsnLeuSerValAspLysTyrValAspSerPheGlyArgThrLeuGluAspLeuThrGluAspSerMetTrpAsnPheHisValTrpAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000202625.7:c.691C>T"
          },
          "RefSeq": {
            "hgvs": "NM_198994.3:c.691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000202625.2:p.Arg231Ter"
          },
          "RefSeq": {
            "hgvs": "NP_945345.2:p.Arg231Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}