{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA507560737",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.1314C>T (p.Tyr438=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1084772[alleleid]",
        "alleleId": 1084772,
        "preferredName": "NM_000709.4(BCKDHA):c.1314C>T (p.Tyr438=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1077989",
        "RCV": [
          "RCV001392781"
        ],
        "variationId": 1077989
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41930489C>T?assembly=hg19",
        "id": "chr19:g.41930489C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123493",
        "rs": 398123493
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41424584-C-T?dataset=gnomad_r4",
        "id": "19-41424584-C-T",
        "variant": "19:41424584 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41424584,
          "referenceAllele": "C",
          "start": 41424583
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41424584C>T",
        "CM000681.2:g.41424584C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41930489,
          "referenceAllele": "C",
          "start": 41930488
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41930489C>T",
        "CM000681.1:g.41930489C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 46622329,
          "referenceAllele": "C",
          "start": 46622328
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46622329C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31796,
          "referenceAllele": "C",
          "start": 31795
        }
      ],
      "hgvs": [
        "NG_013004.1:g.31796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.1314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Tyr438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.1314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.1314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Tyr438="
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Tyr438="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "C",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.1314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Tyr438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.1323C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Tyr441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.1416C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:p.Tyr472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144,
          "referenceAllele": "C",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000544905.1:c.144C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 1887,
          "referenceAllele": "C",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.922+1887C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:n.922+1887C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825242078",
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.1314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Tyr438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826004321",
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.1311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Tyr437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825242078",
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.1314C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Tyr438="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.1314C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.1314C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Tyr438="
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Tyr438="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826004321",
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.1311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Tyr437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}