{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA221207",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99274[alleleid]",
        "alleleId": 99274,
        "preferredName": "NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93367",
        "RCV": [
          "RCV000179335",
          "RCV000790736",
          "RCV001831820"
        ],
        "variationId": 93367
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-41928081-C-T",
        "id": "19-41928081-C-T",
        "variant": "19:41928081 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41928081C>T?assembly=hg19",
        "id": "chr19:g.41928081C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41422176C>T?assembly=hg38",
        "id": "chr19:g.41422176C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375785084",
        "rs": 375785084
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41928081-C-T?dataset=gnomad_r2_1",
        "id": "19-41928081-C-T",
        "variant": "19:41928081 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41422176-C-T?dataset=gnomad_r3",
        "id": "19-41422176-C-T",
        "variant": "19:41422176 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41422176-C-T?dataset=gnomad_r4",
        "id": "19-41422176-C-T",
        "variant": "19:41422176 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41422176,
          "referenceAllele": "C",
          "start": 41422175
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41422176C>T",
        "CM000681.2:g.41422176C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41928081,
          "referenceAllele": "C",
          "start": 41928080
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41928081C>T",
        "CM000681.1:g.41928081C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 46619921,
          "referenceAllele": "C",
          "start": 46619920
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46619921C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29388,
          "referenceAllele": "C",
          "start": 29387
        }
      ],
      "hgvs": [
        "NG_013004.1:g.29388C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Ala220Val",
        "hgvsWellDefined": "ENSP00000269980.2:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.659C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.659C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Ala220Val"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Ala220Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Ala220Val",
        "hgvsWellDefined": "ENSP00000269980.2:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000416000.2:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "C",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000535632.5:n.288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000538423.5:n.785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.761C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:p.Ala254Val",
        "hgvsWellDefined": "ENSP00000443246.1:p.Ala254Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000541315.1:c.559C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362863"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.572C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.Ala191Val",
        "hgvsWellDefined": "ENSP00000440345.1:p.Ala191Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000545787.1:n.287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:p.Ala220Val",
        "hgvsWellDefined": "ENSP00000471150.2:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110219",
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Ala220Val",
        "hgvsWellDefined": "NP_000700.1:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988939",
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Ala220Val",
        "hgvsWellDefined": "NP_001158255.1:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110219",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Ala220Val",
        "hgvsWellDefined": "NP_000700.1:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.659C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.659C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Ala220Val"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Ala220Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988939",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Ala220Val",
        "hgvsWellDefined": "NP_001158255.1:p.Ala220Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}