{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406013419",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972339[alleleid]",
        "alleleId": 972339,
        "preferredName": "NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983564",
        "RCV": [
          "RCV001263563"
        ],
        "variationId": 983564
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41928611A>T?assembly=hg19",
        "id": "chr19:g.41928611A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41422706A>T?assembly=hg38",
        "id": "chr19:g.41422706A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2039381583",
        "rs": 2039381583
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41422706,
          "referenceAllele": "A",
          "start": 41422705
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41422706A>T",
        "CM000681.2:g.41422706A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41928611,
          "referenceAllele": "A",
          "start": 41928610
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41928611A>T",
        "CM000681.1:g.41928611A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 46620451,
          "referenceAllele": "A",
          "start": 46620450
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46620451A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29918,
          "referenceAllele": "A",
          "start": 29917
        }
      ],
      "hgvs": [
        "NG_013004.1:g.29918A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.931A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Lys311Ter",
        "hgvsWellDefined": "ENSP00000269980.2:p.Lys311_Lys445delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.931A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.931A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Lys311Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Lys311Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "A",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.931A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Lys311Ter",
        "hgvsWellDefined": "ENSP00000269980.2:p.Lys311_Lys445delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "A",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.865A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Lys289Ter",
        "hgvsWellDefined": "ENSP00000416000.2:p.Lys289_Lys448delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrSerSerSerProIleLeuProProAspProHisSerArgGluProThrLeuThrTrpGlyProLeuProLeuCysArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "A",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000535632.5:n.560A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "referenceAllele": "A",
          "start": 1159
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.1033A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:p.Lys345Ter",
        "hgvsWellDefined": "ENSP00000443246.1:p.Lys345_Lys479delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 852,
          "referenceAllele": "A",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.844A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.Lys282Ter",
        "hgvsWellDefined": "ENSP00000440345.1:p.Lys282Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "A",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000545787.1:n.559A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "A",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.922+9A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:n.922+9A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139677388",
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "A",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.931A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Lys311Ter",
        "hgvsWellDefined": "NP_000700.1:p.Lys311_Lys445delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826004210",
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "A",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Lys310Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Lys310_Lys444delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139677388",
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.931A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Lys311Ter",
        "hgvsWellDefined": "NP_000700.1:p.Lys311_Lys445delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.931A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.931A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Lys311Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Lys311Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826004210",
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "A",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.928A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Lys310Ter",
        "hgvsWellDefined": "NP_001158255.1:p.Lys310_Lys444delinsGluAlaArgArgArgAlaValAlaGluAsnGlnProPheLeuIleGluAlaMetThrTyrArgIleGlyHisHisSerThrSerAspAspSerSerAlaTyrArgSerValAspGluValAsnTyrTrpAspLysGlnAspHisProIleSerArgLeuArgHisTyrLeuLeuSerGlnGlyTrpTrpAspGluGluGlnGluLysAlaTrpArgLysGlnSerArgArgLysValMetGluAlaPheGluGlnAlaGluArgLysProLysProAsnProAsnLeuLeuPheSerAspValTyrGlnGluMetProAlaGlnLeuArgLysGlnGlnGluSerLeuAlaArgHisLeuGlnThrTyrGlyGluHisTyrProLeuAspHisPheAspLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}