{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA365021597",
  "communityStandardTitle": [
    "NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544000[alleleid]",
        "alleleId": 544000,
        "preferredName": "NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/553268",
        "RCV": [
          "RCV000668675"
        ],
        "variationId": 553268
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.81053491T>A?assembly=hg19",
        "id": "chr6:g.81053491T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80343774T>A?assembly=hg38",
        "id": "chr6:g.80343774T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190867671",
        "rs": 190867671
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 80343774,
          "referenceAllele": "T",
          "start": 80343773
        }
      ],
      "hgvs": [
        "NC_000006.12:g.80343774T>A",
        "CM000668.2:g.80343774T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 81053491,
          "referenceAllele": "T",
          "start": 81053490
        }
      ],
      "hgvs": [
        "NC_000006.11:g.81053491T>A",
        "CM000668.1:g.81053491T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 81110210,
          "referenceAllele": "T",
          "start": 81110209
        }
      ],
      "hgvs": [
        "NC_000006.10:g.81110210T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242148,
          "referenceAllele": "T",
          "start": 242147
        }
      ],
      "hgvs": [
        "NG_009775.1:g.242148T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242148,
          "referenceAllele": "T",
          "start": 242147
        }
      ],
      "hgvs": [
        "NG_009775.2:g.242148T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673531"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "T",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.9:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Tyr383Ter",
        "hgvsWellDefined": "ENSP00000318351.5:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.1149T>A"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.1149T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Tyr383Ter"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Tyr383Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "referenceAllele": "T",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.8:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Tyr383Ter",
        "hgvsWellDefined": "ENSP00000318351.5:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1196,
          "referenceAllele": "T",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000356489.9:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348880.5:p.Tyr383Ter",
        "hgvsWellDefined": "ENSP00000348880.5:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000491328.1:n.204T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328951"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039585",
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.3:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Tyr383Ter",
        "hgvsWellDefined": "NP_000047.1:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829532",
      "coordinates": [
        {
          "allele": "A",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.2:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Tyr383Ter",
        "hgvsWellDefined": "NP_898871.1:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "T",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_006715542.2:c.939T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715605.1:p.Tyr313Ter",
        "hgvsWellDefined": "XP_006715605.1:p.Tyr313_Tyr322delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1250,
          "referenceAllele": "T",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.1:c.*155T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:n.*155T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "T",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536026.1:c.939T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534328.1:p.Tyr313Ter",
        "hgvsWellDefined": "XP_011534328.1:p.Tyr313_Tyr322delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039585",
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.4:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Tyr383Ter",
        "hgvsWellDefined": "NP_000047.1:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026780",
      "coordinates": [
        {
          "allele": "A",
          "end": 1027,
          "referenceAllele": "T",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_001318975.1:c.939T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305904.1:p.Tyr313Ter",
        "hgvsWellDefined": "NP_001305904.1:p.Tyr313_Tyr322delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829532",
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.3:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Tyr383Ter",
        "hgvsWellDefined": "NP_898871.1:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1327,
          "referenceAllele": "T",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.1:n.1327T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1247,
          "referenceAllele": "T",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.3:c.*155T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:n.*155T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "+",
          "endIntronOffset": 70553,
          "referenceAllele": "T",
          "start": 1068,
          "startIntronDirection": "+",
          "startIntronOffset": 70552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743546.2:n.1068+70553T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "+",
          "endIntronOffset": 70553,
          "referenceAllele": "T",
          "start": 1068,
          "startIntronDirection": "+",
          "startIntronOffset": 70552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743547.2:n.1068+70553T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "+",
          "endIntronOffset": 70553,
          "referenceAllele": "T",
          "start": 1068,
          "startIntronDirection": "+",
          "startIntronOffset": 70552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743548.2:n.1068+70553T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592717"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "+",
          "endIntronOffset": 70553,
          "referenceAllele": "T",
          "start": 1068,
          "startIntronDirection": "+",
          "startIntronOffset": 70552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743549.2:n.1068+70553T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "endIntronDirection": "+",
          "endIntronOffset": 70553,
          "referenceAllele": "T",
          "start": 1068,
          "startIntronDirection": "+",
          "startIntronOffset": 70552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_002956292.1:n.1068+70553T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658829532",
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "T",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.4:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Tyr383Ter",
        "hgvsWellDefined": "NP_898871.1:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.1149T>A"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.1149T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Tyr383Ter"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Tyr383Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "T",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.1266T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039585",
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "referenceAllele": "T",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.1149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Tyr383Ter",
        "hgvsWellDefined": "NP_000047.1:p.Tyr383_Tyr392delinsAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}