{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA142283916",
  "communityStandardTitle": [
    "NM_183050.4(BCKDHB):c.477+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1471330[alleleid]",
        "alleleId": 1471330,
        "preferredName": "NM_183050.4(BCKDHB):c.477+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1457763",
        "RCV": [
          "RCV001972711"
        ],
        "variationId": 1457763
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80877529G>A?assembly=hg19",
        "id": "chr6:g.80877529G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80167812G>A?assembly=hg38",
        "id": "chr6:g.80167812G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1002472211",
        "rs": 1002472211
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 80167812,
          "referenceAllele": "G",
          "start": 80167811
        }
      ],
      "hgvs": [
        "NC_000006.12:g.80167812G>A",
        "CM000668.2:g.80167812G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 80877529,
          "referenceAllele": "G",
          "start": 80877528
        }
      ],
      "hgvs": [
        "NC_000006.11:g.80877529G>A",
        "CM000668.1:g.80877529G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 80934248,
          "referenceAllele": "G",
          "start": 80934247
        }
      ],
      "hgvs": [
        "NC_000006.10:g.80934248G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66186,
          "referenceAllele": "G",
          "start": 66185
        }
      ],
      "hgvs": [
        "NG_009775.1:g.66186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66186,
          "referenceAllele": "G",
          "start": 66185
        }
      ],
      "hgvs": [
        "NG_009775.2:g.66186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673531"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.9:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.477+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.477+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:n.477+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:n.477+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 524,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.8:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 524,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000356489.9:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348880.5:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 524,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000369760.8:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358775.4:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.3:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.2:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.3:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_006715542.2:c.267+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715605.1:n.267+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.1:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.1:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.1:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 386,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536026.1:c.267+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534328.1:n.267+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536027.1:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534329.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.4:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_001318975.1:c.267+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305904.1:n.267+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.3:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.1:n.561+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.5:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533152"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.3:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.3:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.3:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743546.2:n.507+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743547.2:n.507+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743548.2:n.507+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743549.2:n.507+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_002956292.1:n.507+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.4:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.477+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.477+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:n.477+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:n.477+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.500+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.477+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:n.477+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}