Canonical Allele Identifier: CA142284037
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 527135
dbSNP Id: rs79761867
gnomAD v2: 6-80878662-G-A
gnomAD v4: 6-80168945-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168945G>A , CM000668.2:g.80168945G>A GRCh38
NC_000006.11:g.80878662G>A , CM000668.1:g.80878662G>A GRCh37
NC_000006.10:g.80935381G>A NCBI36
NG_009775.1:g.67319G>A
NG_009775.2:g.67319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.548G>A MANE Select ENSP00000318351.5:p.Arg183Gln
ENST00000320393.8:c.548G>A ENSP00000318351.5:p.Arg183Gln
ENST00000356489.9:c.548G>A ENSP00000348880.5:p.Arg183Gln
ENST00000369760.8:c.548G>A ENSP00000358775.4:p.Arg183Gln
NM_000056.3:c.548G>A NP_000047.1:p.Arg183Gln
NM_183050.2:c.548G>A NP_898871.1:p.Arg183Gln
XM_005248756.3:c.548G>A XP_005248813.1:p.Arg183Gln
XM_006715542.2:c.338G>A XP_006715605.1:p.Arg113Gln
XM_011536023.1:c.548G>A XP_011534325.1:p.Arg183Gln
XM_011536024.1:c.548G>A XP_011534326.1:p.Arg183Gln
XM_011536025.1:c.548G>A XP_011534327.1:p.Arg183Gln
XM_011536026.1:c.338G>A XP_011534328.1:p.Arg113Gln
XM_011536027.1:c.548G>A XP_011534329.1:p.Arg183Gln
NM_000056.4:c.548G>A NP_000047.1:p.Arg183Gln
NM_001318975.1:c.338G>A NP_001305904.1:p.Arg113Gln
NM_183050.3:c.548G>A NP_898871.1:p.Arg183Gln
NR_134945.1:n.632G>A
XM_005248756.5:c.548G>A XP_005248813.1:p.Arg183Gln
XM_011536023.3:c.548G>A XP_011534325.1:p.Arg183Gln
XM_011536024.3:c.548G>A XP_011534326.1:p.Arg183Gln
XM_011536025.3:c.548G>A XP_011534327.1:p.Arg183Gln
XR_001743546.2:n.578G>A
XR_001743547.2:n.578G>A
XR_001743548.2:n.578G>A
XR_001743549.2:n.578G>A
XR_002956292.1:n.578G>A
NM_183050.4:c.548G>A MANE Select NP_898871.1:p.Arg183Gln
NR_134945.2:n.571G>A
NM_000056.5:c.548G>A NP_000047.1:p.Arg183Gln