{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA364659888",
  "communityStandardTitle": [
    "NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=933529[alleleid]",
        "alleleId": 933529,
        "preferredName": "NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/942899",
        "RCV": [
          "RCV001212982"
        ],
        "variationId": 942899
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80910653G>T?assembly=hg19",
        "id": "chr6:g.80910653G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.80200936G>T?assembly=hg38",
        "id": "chr6:g.80200936G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1774361781",
        "rs": 1774361781
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 80200936,
          "referenceAllele": "G",
          "start": 80200935
        }
      ],
      "hgvs": [
        "NC_000006.12:g.80200936G>T",
        "CM000668.2:g.80200936G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 80910653,
          "referenceAllele": "G",
          "start": 80910652
        }
      ],
      "hgvs": [
        "NC_000006.11:g.80910653G>T",
        "CM000668.1:g.80910653G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 80967372,
          "referenceAllele": "G",
          "start": 80967371
        }
      ],
      "hgvs": [
        "NC_000006.10:g.80967372G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99310,
          "referenceAllele": "G",
          "start": 99309
        }
      ],
      "hgvs": [
        "NG_009775.1:g.99310G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99310,
          "referenceAllele": "G",
          "start": 99309
        }
      ],
      "hgvs": [
        "NG_009775.2:g.99310G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673531"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.9:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Glu249Ter",
        "hgvsWellDefined": "ENSP00000318351.5:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746348",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.745G>T"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.745G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Glu249Ter"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Glu249Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000320393.8:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318351.5:p.Glu249Ter",
        "hgvsWellDefined": "ENSP00000318351.5:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "ENST00000356489.9:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348880.5:p.Glu249Ter",
        "hgvsWellDefined": "ENSP00000348880.5:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039492",
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.3:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Glu249Ter",
        "hgvsWellDefined": "NP_000047.1:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006121"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139758085",
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "G",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.2:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Glu249Ter",
        "hgvsWellDefined": "NP_898871.1:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.3:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_005248813.1:p.Glu250_Asn360delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnIleTyrProHisGluArgThrSerValLysPheSerValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_006715542.2:c.535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715605.1:p.Glu179Ter",
        "hgvsWellDefined": "XP_006715605.1:p.Glu180_Tyr322delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.1:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_011534325.1:p.Glu250_Leu359delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnMetSerValIleGlnSerValCysAspLeuProIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.1:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_011534326.1:p.Glu250_Asp353delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlnLeuGluAspThrGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.1:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_011534327.1:p.Glu250_Phe350delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlyLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536026.1:c.535G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534328.1:p.Glu179Ter",
        "hgvsWellDefined": "XP_011534328.1:p.Glu180_Tyr322delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039492",
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.4:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Glu249Ter",
        "hgvsWellDefined": "NP_000047.1:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827026662",
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "G",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_001318975.1:c.535G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305904.1:p.Glu179Ter",
        "hgvsWellDefined": "NP_001305904.1:p.Glu180_Tyr322delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139758085",
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.3:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Glu249Ter",
        "hgvsWellDefined": "NP_898871.1:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.1:n.923G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_005248756.5:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248813.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_005248813.1:p.Glu250_Asn360delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnIleTyrProHisGluArgThrSerValLysPheSerValAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536023.3:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534325.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_011534325.1:p.Glu250_Leu359delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnMetSerValIleGlnSerValCysAspLeuProIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536024.3:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534326.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_011534326.1:p.Glu250_Asp353delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlnLeuGluAspThrGlyAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XM_011536025.3:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534327.1:p.Glu249Ter",
        "hgvsWellDefined": "XP_011534327.1:p.Glu250_Phe350delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGlyLeuArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743546.2:n.775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743547.2:n.775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743548.2:n.775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_001743549.2:n.775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "XR_002956292.1:n.775G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139758085",
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_183050.4:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_898871.1:p.Glu249Ter",
        "hgvsWellDefined": "NP_898871.1:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673047",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320393.9:c.745G>T"
          },
          "RefSeq": {
            "hgvs": "NM_183050.4:c.745G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318351.5:p.Glu249Ter"
          },
          "RefSeq": {
            "hgvs": "NP_898871.1:p.Glu249Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NR_134945.2:n.862G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039492",
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000987",
      "geneNCBI_id": 594,
      "geneSymbol": "BCKDHB",
      "hgvs": [
        "NM_000056.5:c.745G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000047.1:p.Glu249Ter",
        "hgvsWellDefined": "NP_000047.1:p.Glu250_Tyr392delinsValProIleGluProTyrAsnIleProLeuSerGlnAlaGluValIleGlnGluGlySerAspValThrLeuValAlaTrpGlyThrGlnValHisValIleArgGluValAlaSerMetAlaLysGluLysLeuGlyValSerCysGluValIleAspLeuArgThrIleIleProTrpAspValAspThrIleCysLysSerValIleLysThrGlyArgLeuLeuIleSerHisGluAlaProLeuThrGlyGlyPheAlaSerGluIleSerSerThrValGlnGluGluCysPheLeuAsnLeuGluAlaProIleSerArgValCysGlyTyrAspThrProPheProHisIlePheGluProPheTyrIleProAspLysTrpLysCysTyrAspAlaLeuArgLysMetIleAsnTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710793"
    }
  ],
  "type": "nucleotide"
}