{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA365021586", "communityStandardTitle": [ "NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=612278[alleleid]", "alleleId": 612278, "preferredName": "NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/623329", "RCV": [ "RCV000761470" ], "variationId": 623329 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.81053487G>A?assembly=hg19", "id": "chr6:g.81053487G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.80343770G>A?assembly=hg38", "id": "chr6:g.80343770G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1202365275", "rs": 1202365275 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-80343770-G-A?dataset=gnomad_r3", "id": "6-80343770-G-A", "variant": "6:80343770 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-80343770-G-A?dataset=gnomad_r4", "id": "6-80343770-G-A", "variant": "6:80343770 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 80343770, "referenceAllele": "G", "start": 80343769 } ], "hgvs": [ "NC_000006.12:g.80343770G>A", "CM000668.2:g.80343770G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 81053487, "referenceAllele": "G", "start": 81053486 } ], "hgvs": [ "NC_000006.11:g.81053487G>A", "CM000668.1:g.81053487G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 81110206, "referenceAllele": "G", "start": 81110205 } ], "hgvs": [ "NC_000006.10:g.81110206G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 242144, "referenceAllele": "G", "start": 242143 } ], "hgvs": [ "NG_009775.1:g.242144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001633" }, { "coordinates": [ { "allele": "A", "end": 242144, "referenceAllele": "G", "start": 242143 } ], "hgvs": [ "NG_009775.2:g.242144G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673531" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "G", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "ENST00000320393.9:c.1145G>A" ], "proteinEffect": { "hgvs": "ENSP00000318351.5:p.Cys382Tyr", "hgvsWellDefined": "ENSP00000318351.5:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS746348", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320393.9:c.1145G>A" }, "RefSeq": { "hgvs": "NM_183050.4:c.1145G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000318351.5:p.Cys382Tyr" }, "RefSeq": { "hgvs": "NP_898871.1:p.Cys382Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "ENST00000320393.8:c.1145G>A" ], "proteinEffect": { "hgvs": "ENSP00000318351.5:p.Cys382Tyr", "hgvsWellDefined": "ENSP00000318351.5:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS257799" }, { "coordinates": [ { "allele": "A", "end": 1192, "referenceAllele": "G", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "ENST00000356489.9:c.1145G>A" ], "proteinEffect": { "hgvs": "ENSP00000348880.5:p.Cys382Tyr", "hgvsWellDefined": "ENSP00000348880.5:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS263777" }, { "coordinates": [ { "allele": "A", "end": 200, "referenceAllele": "G", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "ENST00000491328.1:n.200G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328951" }, { "@id": "http://reg.genome.network/allele/PA2825039584", "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_000056.3:c.1145G>A" ], "proteinEffect": { "hgvs": "NP_000047.1:p.Cys382Tyr", "hgvsWellDefined": "NP_000047.1:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006121" }, { "@id": "http://reg.genome.network/allele/PA913203098", "coordinates": [ { "allele": "A", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_183050.2:c.1145G>A" ], "proteinEffect": { "hgvs": "NP_898871.1:p.Cys382Tyr", "hgvsWellDefined": "NP_898871.1:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS044224" }, { "coordinates": [ { "allele": "A", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_006715542.2:c.935G>A" ], "proteinEffect": { "hgvs": "XP_006715605.1:p.Cys312Tyr", "hgvsWellDefined": "XP_006715605.1:p.Cys312Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS071208" }, { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536024.1:c.*151G>A" ], "proteinEffect": { "hgvs": "XP_011534326.1:n.*151G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS103026" }, { "coordinates": [ { "allele": "A", "end": 1054, "referenceAllele": "G", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536026.1:c.935G>A" ], "proteinEffect": { "hgvs": "XP_011534328.1:p.Cys312Tyr", "hgvsWellDefined": "XP_011534328.1:p.Cys312Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS103028" }, { "@id": "http://reg.genome.network/allele/PA2825039584", "coordinates": [ { "allele": "A", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_000056.4:c.1145G>A" ], "proteinEffect": { "hgvs": "NP_000047.1:p.Cys382Tyr", "hgvsWellDefined": "NP_000047.1:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510747" }, { "@id": "http://reg.genome.network/allele/PA2827026777", "coordinates": [ { "allele": "A", "end": 1023, "referenceAllele": "G", "start": 1022 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_001318975.1:c.935G>A" ], "proteinEffect": { "hgvs": "NP_001305904.1:p.Cys312Tyr", "hgvsWellDefined": "NP_001305904.1:p.Cys312Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS513173" }, { "@id": "http://reg.genome.network/allele/PA913203098", "coordinates": [ { "allele": "A", "end": 1229, "referenceAllele": "G", "start": 1228 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_183050.3:c.1145G>A" ], "proteinEffect": { "hgvs": "NP_898871.1:p.Cys382Tyr", "hgvsWellDefined": "NP_898871.1:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS526915" }, { "coordinates": [ { "allele": "A", "end": 1323, "referenceAllele": "G", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NR_134945.1:n.1323G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527881" }, { "coordinates": [ { "allele": "A", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XM_011536024.3:c.*151G>A" ], "proteinEffect": { "hgvs": "XP_011534326.1:n.*151G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS552291" }, { "coordinates": [ { "allele": "A", "end": 1068, "endIntronDirection": "+", "endIntronOffset": 70549, "referenceAllele": "G", "start": 1068, "startIntronDirection": "+", "startIntronOffset": 70548 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743546.2:n.1068+70549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592715" }, { "coordinates": [ { "allele": "A", "end": 1068, "endIntronDirection": "+", "endIntronOffset": 70549, "referenceAllele": "G", "start": 1068, "startIntronDirection": "+", "startIntronOffset": 70548 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743547.2:n.1068+70549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592716" }, { "coordinates": [ { "allele": "A", "end": 1068, "endIntronDirection": "+", "endIntronOffset": 70549, "referenceAllele": "G", "start": 1068, "startIntronDirection": "+", "startIntronOffset": 70548 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743548.2:n.1068+70549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592717" }, { "coordinates": [ { "allele": "A", "end": 1068, "endIntronDirection": "+", "endIntronOffset": 70549, "referenceAllele": "G", "start": 1068, "startIntronDirection": "+", "startIntronOffset": 70548 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_001743549.2:n.1068+70549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS592718" }, { "coordinates": [ { "allele": "A", "end": 1068, "endIntronDirection": "+", "endIntronOffset": 70549, "referenceAllele": "G", "start": 1068, "startIntronDirection": "+", "startIntronOffset": 70548 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "XR_002956292.1:n.1068+70549G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602454" }, { "@id": "http://reg.genome.network/allele/PA913203098", "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "G", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_183050.4:c.1145G>A" ], "proteinEffect": { "hgvs": "NP_898871.1:p.Cys382Tyr", "hgvsWellDefined": "NP_898871.1:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS673047", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000320393.9:c.1145G>A" }, "RefSeq": { "hgvs": "NM_183050.4:c.1145G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000318351.5:p.Cys382Tyr" }, "RefSeq": { "hgvs": "NP_898871.1:p.Cys382Tyr" } } } }, { "coordinates": [ { "allele": "A", "end": 1262, "referenceAllele": "G", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NR_134945.2:n.1262G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703545" }, { "@id": "http://reg.genome.network/allele/PA2825039584", "coordinates": [ { "allele": "A", "end": 1168, "referenceAllele": "G", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN000987", "geneNCBI_id": 594, "geneSymbol": "BCKDHB", "hgvs": [ "NM_000056.5:c.1145G>A" ], "proteinEffect": { "hgvs": "NP_000047.1:p.Cys382Tyr", "hgvsWellDefined": "NP_000047.1:p.Cys382Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS710793" } ], "type": "nucleotide" }