{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2336459029",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.741T= (p.His247=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123504",
        "rs": 398123504
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2039374788",
        "rs": 2039374788
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41422258,
          "referenceAllele": "T",
          "start": 41422257
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41422258T=",
        "CM000681.2:g.41422258T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41928163,
          "referenceAllele": "T",
          "start": 41928162
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41928163T=",
        "CM000681.1:g.41928163T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 46620003,
          "referenceAllele": "T",
          "start": 46620002
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46620003T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29470,
          "referenceAllele": "T",
          "start": 29469
        }
      ],
      "hgvs": [
        "NG_013004.1:g.29470T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "T",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.741T="
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.741T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.His247="
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.His247="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "T",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 680,
          "referenceAllele": "T",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.675T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.His225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000535632.5:n.370T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "T",
          "start": 969
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.843T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:p.His281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "T",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.654T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.His218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "T",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000545787.1:n.369T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086033280",
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086033280",
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "T",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.741T="
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.741T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.His247="
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.His247="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "T",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.741T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.His247="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}