Canonical Allele Identifier: CA224312
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96594
dbSNP Id: rs398124583
gnomAD v3: 6-80168926-T-C
gnomAD v4: 6-80168926-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168926T>C , CM000668.2:g.80168926T>C GRCh38
NC_000006.11:g.80878643T>C , CM000668.1:g.80878643T>C GRCh37
NC_000006.10:g.80935362T>C NCBI36
NG_009775.1:g.67300T>C
NG_009775.2:g.67300T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.529T>C MANE Select ENSP00000318351.5:p.Cys177Arg
ENST00000320393.8:c.529T>C ENSP00000318351.5:p.Cys177Arg
ENST00000356489.9:c.529T>C ENSP00000348880.5:p.Cys177Arg
ENST00000369760.8:c.529T>C ENSP00000358775.4:p.Cys177Arg
NM_000056.3:c.529T>C NP_000047.1:p.Cys177Arg
NM_183050.2:c.529T>C NP_898871.1:p.Cys177Arg
XM_005248756.3:c.529T>C XP_005248813.1:p.Cys177Arg
XM_006715542.2:c.319T>C XP_006715605.1:p.Cys107Arg
XM_011536023.1:c.529T>C XP_011534325.1:p.Cys177Arg
XM_011536024.1:c.529T>C XP_011534326.1:p.Cys177Arg
XM_011536025.1:c.529T>C XP_011534327.1:p.Cys177Arg
XM_011536026.1:c.319T>C XP_011534328.1:p.Cys107Arg
XM_011536027.1:c.529T>C XP_011534329.1:p.Cys177Arg
NM_000056.4:c.529T>C NP_000047.1:p.Cys177Arg
NM_001318975.1:c.319T>C NP_001305904.1:p.Cys107Arg
NM_183050.3:c.529T>C NP_898871.1:p.Cys177Arg
NR_134945.1:n.613T>C
XM_005248756.5:c.529T>C XP_005248813.1:p.Cys177Arg
XM_011536023.3:c.529T>C XP_011534325.1:p.Cys177Arg
XM_011536024.3:c.529T>C XP_011534326.1:p.Cys177Arg
XM_011536025.3:c.529T>C XP_011534327.1:p.Cys177Arg
XR_001743546.2:n.559T>C
XR_001743547.2:n.559T>C
XR_001743548.2:n.559T>C
XR_001743549.2:n.559T>C
XR_002956292.1:n.559T>C
NM_183050.4:c.529T>C MANE Select NP_898871.1:p.Cys177Arg
NR_134945.2:n.552T>C
NM_000056.5:c.529T>C NP_000047.1:p.Cys177Arg