{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9731940",
  "communityStandardTitle": [
    "NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015107[alleleid]",
        "alleleId": 1015107,
        "preferredName": "NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027361",
        "RCV": [
          "RCV001327983"
        ],
        "variationId": 1027361
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-2384058-G-A",
        "id": "20-2384058-G-A",
        "variant": "20:2384058 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2384058G>A?assembly=hg19",
        "id": "chr20:g.2384058G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.2403412G>A?assembly=hg38",
        "id": "chr20:g.2403412G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750743855",
        "rs": 750743855
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2384058-G-A?dataset=gnomad_r2_1",
        "id": "20-2384058-G-A",
        "variant": "20:2384058 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-2403412-G-A?dataset=gnomad_r4",
        "id": "20-2403412-G-A",
        "variant": "20:2403412 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 2403412,
          "referenceAllele": "G",
          "start": 2403411
        }
      ],
      "hgvs": [
        "NC_000020.11:g.2403412G>A",
        "CM000682.2:g.2403412G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 2384058,
          "referenceAllele": "G",
          "start": 2384057
        }
      ],
      "hgvs": [
        "NC_000020.10:g.2384058G>A",
        "CM000682.1:g.2384058G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 2332058,
          "referenceAllele": "G",
          "start": 2332057
        }
      ],
      "hgvs": [
        "NC_000020.9:g.2332058G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27505,
          "referenceAllele": "G",
          "start": 27504
        }
      ],
      "hgvs": [
        "NG_031917.1:g.27505G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005028"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000202625.7:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000202625.2:p.Trp335Ter",
        "hgvsWellDefined": "ENSP00000202625.2:p.Trp335_Lys706delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000202625.7:c.1005G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198994.3:c.1005G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000202625.2:p.Trp335Ter"
          },
          "RefSeq": {
            "hgvs": "NP_945345.2:p.Trp335Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000202625.6:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000202625.2:p.Trp335Ter",
        "hgvsWellDefined": "ENSP00000202625.2:p.Trp335_Lys706delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "ENST00000381423.1:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370831.1:p.Trp335Ter",
        "hgvsWellDefined": "ENSP00000370831.1:p.Trp335_Val625delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysArgAlaTyrProGlyAlaSerGlyGluGlyLeuSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365513",
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_001254734.1:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241663.1:p.Trp335Ter",
        "hgvsWellDefined": "NP_001241663.1:p.Trp335_Val625delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysArgAlaTyrProGlyAlaSerGlyGluGlyLeuSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304073",
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_198994.2:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_945345.2:p.Trp335Ter",
        "hgvsWellDefined": "NP_945345.2:p.Trp335_Lys706delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365513",
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_001254734.2:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241663.1:p.Trp335Ter",
        "hgvsWellDefined": "NP_001241663.1:p.Trp335_Val625delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysArgAlaTyrProGlyAlaSerGlyGluGlyLeuSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304073",
      "coordinates": [
        {
          "allele": "A",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016255",
      "geneNCBI_id": 343641,
      "geneSymbol": "TGM6",
      "hgvs": [
        "NM_198994.3:c.1005G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_945345.2:p.Trp335Ter",
        "hgvsWellDefined": "NP_945345.2:p.Trp335_Lys706delinsAsnGluSerTrpPheAlaArgGlnAspLeuGlyProSerTyrAsnGlyTrpGlnValLeuAspAlaThrProGlnGluGluSerGluGlyValPheArgCysGlyProAlaSerValThrAlaIleArgGluGlyAspValHisLeuAlaHisAspGlyProPheValPheAlaGluValAsnAlaAspTyrIleThrTrpLeuTrpHisGluAspGluSerArgGluArgValTyrSerAsnThrLysLysIleGlyArgCysIleSerThrLysAlaValGlySerAspSerArgValAspIleThrAspLeuTyrLysTyrProGluGlySerArgLysGluArgGlnValTyrSerLysAlaValAsnArgLeuPheGlyValGluAlaSerGlyArgArgIleTrpIleArgArgAlaGlyGlyArgCysLeuTrpArgAspAspLeuLeuGluProAlaThrLysProSerIleAlaGlyLysPheLysValLeuGluProProMetLeuGlyHisAspLeuArgLeuAlaLeuCysLeuAlaAsnLeuThrSerArgAlaGlnArgValArgValAsnLeuSerGlyAlaThrIleLeuTyrThrArgLysProValAlaGluIleLeuHisGluSerHisAlaValArgLeuGlyProGlnGluGluLysArgIleProIleThrIleSerTyrSerLysTyrLysGluAspLeuThrGluAspLysLysIleLeuLeuAlaAlaMetCysLeuValThrLysGlyGluLysLeuLeuValGluLysAspIleThrLeuGluAspPheIleThrIleLysValLeuGlyProAlaMetValGlyValAlaValThrValGluValThrValValAsnProLeuIleGluArgValLysAspCysAlaLeuMetValGluGlySerGlyLeuLeuGlnGluGlnLeuSerIleAspValProThrLeuGluProGlnGluArgAlaSerValGlnPheAspIleThrProSerLysSerGlyProArgGlnLeuGlnValAspLeuValSerProHisPheProAspIleLysGlyPheValIleValHisValAlaThrAlaLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000202625.7:c.1005G>A"
          },
          "RefSeq": {
            "hgvs": "NM_198994.3:c.1005G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000202625.2:p.Trp335Ter"
          },
          "RefSeq": {
            "hgvs": "NP_945345.2:p.Trp335Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}