Canonical Allele Identifier: CA142276807
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1190086
ClinVar RCV Id: RCV001550666
dbSNP Id: rs113448714
gnomAD v2: 6-80816340-C-T
gnomAD v3: 6-80106623-C-T
gnomAD v4: 6-80106623-C-T
MyVariant Identifiers: chr6:g.80816340C>T (hg19) chr6:g.80106623C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106623C>T , CM000668.2:g.80106623C>T GRCh38
NC_000006.11:g.80816340C>T , CM000668.1:g.80816340C>T GRCh37
NC_000006.10:g.80873059C>T NCBI36
NG_009775.1:g.4997C>T
NG_009775.2:g.4997C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000056.4:c.-71C>T NP_000047.1:n.-71C>T
NM_001318975.1:c.-75C>T NP_001305904.1:n.-75C>T
NM_183050.3:c.-71C>T NP_898871.1:n.-71C>T
NR_134945.1:n.14C>T
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