{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406013731",
  "communityStandardTitle": [
    "NM_000709.4(BCKDHA):c.996-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2833848[alleleid]",
        "alleleId": 2833848,
        "preferredName": "NM_000709.4(BCKDHA):c.996-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2680120",
        "RCV": [
          "RCV003465158"
        ],
        "variationId": 2680120
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41928902G>A?assembly=hg19",
        "id": "chr19:g.41928902G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41422997G>A?assembly=hg38",
        "id": "chr19:g.41422997G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513460977",
        "rs": 2513460977
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41422997-G-A?dataset=gnomad_r4",
        "id": "19-41422997-G-A",
        "variant": "19:41422997 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41422997,
          "referenceAllele": "G",
          "start": 41422996
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41422997G>A",
        "CM000681.2:g.41422997G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41928902,
          "referenceAllele": "G",
          "start": 41928901
        }
      ],
      "hgvs": [
        "NC_000019.9:g.41928902G>A",
        "CM000681.1:g.41928902G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 46620742,
          "referenceAllele": "G",
          "start": 46620741
        }
      ],
      "hgvs": [
        "NC_000019.8:g.46620742G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30209,
          "referenceAllele": "G",
          "start": 30208
        }
      ],
      "hgvs": [
        "NG_013004.1:g.30209G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1005,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.7:c.996-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:n.996-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743136",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.996-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.996-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:n.996-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:n.996-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1363,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000269980.6:c.996-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269980.2:n.996-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "G",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000457836.6:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416000.2:p.Arg335Lys",
        "hgvsWellDefined": "ENSP00000416000.2:p.Arg335Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000540732.3:c.1098-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443246.1:n.1098-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000542943.5:c.909-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440345.1:n.909-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 300,
          "referenceAllele": "G",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "ENST00000595085.5:c.922+300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471150.2:n.922+300G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1034,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.3:c.996-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:n.996-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.1:c.993-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:n.993-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1005,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_000709.4:c.996-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000700.1:n.996-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269980.7:c.996-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000709.4:c.996-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269980.2:n.996-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000700.1:n.996-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000986",
      "geneNCBI_id": 593,
      "geneSymbol": "BCKDHA",
      "hgvs": [
        "NM_001164783.2:c.993-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158255.1:n.993-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678396"
    }
  ],
  "type": "nucleotide"
}