{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406012979",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868450[alleleid]",
        "alleleId": 1868450,
        "preferredName": "NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138298",
        "RCV": [
          "RCV003064585"
        ],
        "variationId": 2138298
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41928222A>G?assembly=hg19",
        "id": "chr19:g.41928222A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41422317A>G?assembly=hg38",
        "id": "chr19:g.41422317A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1568508047",
        "rs": 1568508047
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41422317-A-G?dataset=gnomad_r4",
        "id": "19-41422317-A-G",
        "variant": "19:41422317 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41422317,
          "referenceAllele": "A",
          "start": 41422316
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41422317A>G",
        "CM000681.2:g.41422317A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41928222,
          "referenceAllele": "A",
          "start": 41928221
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41928222A>G",
        "CM000681.1:g.41928222A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 46620062,
          "referenceAllele": "A",
          "start": 46620061
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46620062A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29529,
          "referenceAllele": "A",
          "start": 29528
        }
      ],
      "hgvs": [
        "NG_013004.1:g.29529A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "A",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Asn267Ser",
        "hgvsWellDefined": "ENSP00000269980.2:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.800A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.800A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Asn267Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Asn267Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:p.Asn267Ser",
        "hgvsWellDefined": "ENSP00000269980.2:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "A",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.734A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Asn245Ser",
        "hgvsWellDefined": "ENSP00000416000.2:p.Asn245Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "A",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000535632.5:n.429A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "A",
          "start": 1028
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.902A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:p.Asn301Ser",
        "hgvsWellDefined": "ENSP00000443246.1:p.Asn301Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "A",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.713A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:p.Asn238Ser",
        "hgvsWellDefined": "ENSP00000440345.1:p.Asn238Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000545787.1:n.428A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:p.Asn267Ser",
        "hgvsWellDefined": "ENSP00000471150.2:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241747",
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Asn267Ser",
        "hgvsWellDefined": "NP_000700.1:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151363",
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Asn267Ser",
        "hgvsWellDefined": "NP_001158255.1:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825241747",
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "A",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:p.Asn267Ser",
        "hgvsWellDefined": "NP_000700.1:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.800A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.800A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:p.Asn267Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:p.Asn267Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151363",
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "A",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:p.Asn267Ser",
        "hgvsWellDefined": "NP_001158255.1:p.Asn267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}