{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10603308",
  "communityStandardTitle": [
    "NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264686[alleleid]",
        "alleleId": 264686,
        "preferredName": "NM_000359.3(TGM1):c.379C>T (p.Arg127Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279910",
        "RCV": [
          "RCV000381439",
          "RCV000670709",
          "RCV002222463"
        ],
        "variationId": 279910
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24731030G>A?assembly=hg19",
        "id": "chr14:g.24731030G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24261824G>A?assembly=hg38",
        "id": "chr14:g.24261824G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041250",
        "rs": 886041250
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24731030-G-A?dataset=gnomad_r2_1",
        "id": "14-24731030-G-A",
        "variant": "14:24731030 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24261824-G-A?dataset=gnomad_r3",
        "id": "14-24261824-G-A",
        "variant": "14:24261824 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24261824-G-A?dataset=gnomad_r4",
        "id": "14-24261824-G-A",
        "variant": "14:24261824 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24261824,
          "referenceAllele": "G",
          "start": 24261823
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24261824G>A",
        "CM000676.2:g.24261824G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 24731030,
          "referenceAllele": "G",
          "start": 24731029
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24731030G>A",
        "CM000676.1:g.24731030G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 23800870,
          "referenceAllele": "G",
          "start": 23800869
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23800870G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6343,
          "referenceAllele": "C",
          "start": 6342
        }
      ],
      "hgvs": [
        "NG_007150.1:g.6343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6343,
          "referenceAllele": "C",
          "start": 6342
        }
      ],
      "hgvs": [
        "NG_007150.2:g.6343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000206765.11:c.379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206765.6:p.Arg127Ter",
        "hgvsWellDefined": "ENSP00000206765.6:p.Arg127_Ala817delinsGluHisHisThrAspGluTyrGluTyrAspGluLeuIleValArgArgGlyGlnProPheHisMetLeuLeuLeuLeuSerArgThrTyrGluSerSerAspArgIleThrLeuGluLeuLeuIleGlyAsnAsnProGluValGlyLysGlyThrHisValIleIleProValGlyLysGlyGlySerGlyGlyTrpLysAlaGlnValValLysAlaSerGlyGlnAsnLeuAsnLeuArgValHisThrSerProAsnAlaIleIleGlyLysPheGlnPheThrValArgThrGlnSerAspAlaGlyGluPheGlnLeuProPheAspProArgAsnGluIleTyrIleLeuPheAsnProTrpCysProGluAspIleValTyrValAspHisGluAspTrpArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206765.11:c.379C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000359.3:c.379C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206765.6:p.Arg127Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000350.1:p.Arg127Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000206765.10:c.379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000206765.6:p.Arg127Ter",
        "hgvsWellDefined": "ENSP00000206765.6:p.Arg127_Ala817delinsGluHisHisThrAspGluTyrGluTyrAspGluLeuIleValArgArgGlyGlnProPheHisMetLeuLeuLeuLeuSerArgThrTyrGluSerSerAspArgIleThrLeuGluLeuLeuIleGlyAsnAsnProGluValGlyLysGlyThrHisValIleIleProValGlyLysGlyGlySerGlyGlyTrpLysAlaGlnValValLysAlaSerGlyGlnAsnLeuAsnLeuArgValHisThrSerProAsnAlaIleIleGlyLysPheGlnPheThrValArgThrGlnSerAspAlaGlyGluPheGlnLeuProPheAspProArgAsnGluIleTyrIleLeuPheAsnProTrpCysProGluAspIleValTyrValAspHisGluAspTrpArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 320,
          "endIntronDirection": "+",
          "endIntronOffset": 303,
          "referenceAllele": "C",
          "start": 320,
          "startIntronDirection": "+",
          "startIntronOffset": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000544573.5:c.-29+303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439446.1:n.-29+303C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "ENST00000558074.1:c.379C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453840.1:p.Arg127Ter",
        "hgvsWellDefined": "ENSP00000453840.1:p.Arg127_Glu135del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417377",
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NM_000359.2:c.379C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000350.1:p.Arg127Ter",
        "hgvsWellDefined": "NP_000350.1:p.Arg127_Ala817delinsGluHisHisThrAspGluTyrGluTyrAspGluLeuIleValArgArgGlyGlnProPheHisMetLeuLeuLeuLeuSerArgThrTyrGluSerSerAspArgIleThrLeuGluLeuLeuIleGlyAsnAsnProGluValGlyLysGlyThrHisValIleIleProValGlyLysGlyGlySerGlyGlyTrpLysAlaGlnValValLysAlaSerGlyGlnAsnLeuAsnLeuArgValHisThrSerProAsnAlaIleIleGlyLysPheGlnPheThrValArgThrGlnSerAspAlaGlyGluPheGlnLeuProPheAspProArgAsnGluIleTyrIleLeuPheAsnProTrpCysProGluAspIleValTyrValAspHisGluAspTrpArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006421"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417377",
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NM_000359.3:c.379C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000350.1:p.Arg127Ter",
        "hgvsWellDefined": "NP_000350.1:p.Arg127_Ala817delinsGluHisHisThrAspGluTyrGluTyrAspGluLeuIleValArgArgGlyGlnProPheHisMetLeuLeuLeuLeuSerArgThrTyrGluSerSerAspArgIleThrLeuGluLeuLeuIleGlyAsnAsnProGluValGlyLysGlyThrHisValIleIleProValGlyLysGlyGlySerGlyGlyTrpLysAlaGlnValValLysAlaSerGlyGlnAsnLeuAsnLeuArgValHisThrSerProAsnAlaIleIleGlyLysPheGlnPheThrValArgThrGlnSerAspAlaGlyGluPheGlnLeuProPheAspProArgAsnGluIleTyrIleLeuPheAsnProTrpCysProGluAspIleValTyrValAspHisGluAspTrpArgGlnGluTyrValLeuAsnGluSerGlyArgIleTyrTyrGlyThrGluAlaGlnIleGlyGluArgThrTrpAsnTyrGlyGlnPheAspHisGlyValLeuAspAlaCysLeuTyrIleLeuAspArgArgGlyMetProTyrGlyGlyArgGlyAspProValAsnValSerArgValIleSerAlaMetValAsnSerLeuAspAspAsnGlyValLeuIleGlyAsnTrpSerGlyAspTyrSerArgGlyThrAsnProSerAlaTrpValGlySerValGluIleLeuLeuSerTyrLeuArgThrGlyTyrSerValProTyrGlyGlnCysTrpValPheAlaGlyValThrThrThrValLeuArgCysLeuGlyLeuAlaThrArgThrValThrAsnPheAsnSerAlaHisAspThrAspThrSerLeuThrMetAspIleTyrPheAspGluAsnMetLysProLeuGluHisLeuAsnHisAspSerValTrpAsnPheHisValTrpAsnAspCysTrpMetLysArgProAspLeuProSerGlyPheAspGlyTrpGlnValValAspAlaThrProGlnGluThrSerSerGlyIlePheCysCysGlyProCysSerValGluSerIleLysAsnGlyLeuValTyrMetLysTyrAspThrProPheIlePheAlaGluValAsnSerAspLysValTyrTrpGlnArgGlnAspAspGlySerPheLysIleValTyrValGluGluLysAlaIleGlyThrLeuIleValThrLysAlaIleSerSerAsnMetArgGluAspIleThrTyrLeuTyrLysHisProGluGlySerAspAlaGluArgLysAlaValGluThrAlaAlaAlaHisGlySerLysProAsnValTyrAlaAsnArgGlySerAlaGluAspValAlaMetGlnValGluAlaGlnAspAlaValMetGlyGlnAspLeuMetValSerValMetLeuIleAsnHisSerSerSerArgArgThrValLysLeuHisLeuTyrLeuSerValThrPheTyrThrGlyValSerGlyThrIlePheLysGluThrLysLysGluValGluLeuAlaProGlyAlaSerAspArgValThrMetProValAlaTyrLysGluTyrArgProHisLeuValAspGlnGlyAlaMetLeuLeuAsnValSerGlyHisValLysGluSerGlyGlnValLeuAlaLysGlnHisThrPheArgLeuArgThrProAspLeuSerLeuThrLeuLeuGlyAlaAlaValValGlyGlnGluCysGluValGlnIleValPheLysAsnProLeuProValThrLeuThrAsnValValPheArgLeuGluGlySerGlyLeuGlnArgProLysIleLeuAsnValGlyAspIleGlyGlyAsnGluThrValThrLeuArgGlnSerPheValProValArgProGlyProArgGlnLeuIleAlaSerLeuAspSerProGlnLeuSerGlnValHisGlyValIleGlnValAspValAlaProAlaProGlyAspGlyGlyPhePheSerAspAlaGlyGlyAspSerHisLeuGlyGluThrIleProMetAlaSerArgGlyGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662415",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000206765.11:c.379C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000359.3:c.379C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000206765.6:p.Arg127Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000350.1:p.Arg127Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}