Canonical Allele Identifier: CA224301
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96590
dbSNP Id: rs398124581
gnomAD v2: 6-80878622-C-T
gnomAD v4: 6-80168905-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168905C>T , CM000668.2:g.80168905C>T GRCh38
NC_000006.11:g.80878622C>T , CM000668.1:g.80878622C>T GRCh37
NC_000006.10:g.80935341C>T NCBI36
NG_009775.1:g.67279C>T
NG_009775.2:g.67279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.508C>T MANE Select ENSP00000318351.5:p.Arg170Cys
ENST00000320393.8:c.508C>T ENSP00000318351.5:p.Arg170Cys
ENST00000356489.9:c.508C>T ENSP00000348880.5:p.Arg170Cys
ENST00000369760.8:c.508C>T ENSP00000358775.4:p.Arg170Cys
NM_000056.3:c.508C>T NP_000047.1:p.Arg170Cys
NM_183050.2:c.508C>T NP_898871.1:p.Arg170Cys
XM_005248756.3:c.508C>T XP_005248813.1:p.Arg170Cys
XM_006715542.2:c.298C>T XP_006715605.1:p.Arg100Cys
XM_011536023.1:c.508C>T XP_011534325.1:p.Arg170Cys
XM_011536024.1:c.508C>T XP_011534326.1:p.Arg170Cys
XM_011536025.1:c.508C>T XP_011534327.1:p.Arg170Cys
XM_011536026.1:c.298C>T XP_011534328.1:p.Arg100Cys
XM_011536027.1:c.508C>T XP_011534329.1:p.Arg170Cys
NM_000056.4:c.508C>T NP_000047.1:p.Arg170Cys
NM_001318975.1:c.298C>T NP_001305904.1:p.Arg100Cys
NM_183050.3:c.508C>T NP_898871.1:p.Arg170Cys
NR_134945.1:n.592C>T
XM_005248756.5:c.508C>T XP_005248813.1:p.Arg170Cys
XM_011536023.3:c.508C>T XP_011534325.1:p.Arg170Cys
XM_011536024.3:c.508C>T XP_011534326.1:p.Arg170Cys
XM_011536025.3:c.508C>T XP_011534327.1:p.Arg170Cys
XR_001743546.2:n.538C>T
XR_001743547.2:n.538C>T
XR_001743548.2:n.538C>T
XR_001743549.2:n.538C>T
XR_002956292.1:n.538C>T
NM_183050.4:c.508C>T MANE Select NP_898871.1:p.Arg170Cys
NR_134945.2:n.531C>T
NM_000056.5:c.508C>T NP_000047.1:p.Arg170Cys