{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2336460032",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.1198A= (p.Lys400=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225262",
        "rs": 863225262
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41424468,
          "referenceAllele": "A",
          "start": 41424467
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41424468A=",
        "CM000681.2:g.41424468A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41930373,
          "referenceAllele": "A",
          "start": 41930372
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41930373A=",
        "CM000681.1:g.41930373A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 46622213,
          "referenceAllele": "A",
          "start": 46622212
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46622213A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31680,
          "referenceAllele": "A",
          "start": 31679
        }
      ],
      "hgvs": [
        "NG_013004.1:g.31680A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.1198A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Lys400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.1198A="
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.1198A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Lys400="
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Lys400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "referenceAllele": "A",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.1198A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Lys400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "A",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.1207A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Lys403="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "A",
          "start": 1426
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.1300A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:p.Lys434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 61,
          "endIntronDirection": "-",
          "endIntronOffset": 33,
          "referenceAllele": "A",
          "start": 61,
          "startIntronDirection": "-",
          "startIntronOffset": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000544905.1:c.62-34A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 1771,
          "referenceAllele": "A",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.922+1771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:n.922+1771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086511634",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "referenceAllele": "A",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.1198A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Lys400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1234,
          "referenceAllele": "A",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.1195A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Lys399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3086511634",
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.1198A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Lys400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.1198A="
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.1198A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Lys400="
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Lys400="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1205,
          "referenceAllele": "A",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.1195A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Lys399="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}