Canonical Allele Identifier: CA3902469
Gene: BCKDHB HGNC NCBI

Linked Data

dbSNP Id: rs189864392
gnomAD v2: 6-80816424-C-A
gnomAD v3: 6-80106707-C-A
gnomAD v4: 6-80106707-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106707C>A , CM000668.2:g.80106707C>A GRCh38
NC_000006.11:g.80816424C>A , CM000668.1:g.80816424C>A GRCh37
NC_000006.10:g.80873143C>A NCBI36
NG_009775.1:g.5081C>A
NG_009775.2:g.5081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.14C>A MANE Select ENSP00000318351.5:p.Ala5Glu
ENST00000320393.8:c.14C>A ENSP00000318351.5:p.Ala5Glu
ENST00000356489.9:c.14C>A ENSP00000348880.5:p.Ala5Glu
ENST00000369760.8:c.14C>A ENSP00000358775.4:p.Ala5Glu
NM_000056.3:c.14C>A NP_000047.1:p.Ala5Glu
NM_183050.2:c.14C>A NP_898871.1:p.Ala5Glu
XM_005248756.3:c.14C>A XP_005248813.1:p.Ala5Glu
XM_006715542.2:c.-15+24C>A XP_006715605.1:n.-15+24C>A
XM_011536023.1:c.14C>A XP_011534325.1:p.Ala5Glu
XM_011536024.1:c.14C>A XP_011534326.1:p.Ala5Glu
XM_011536025.1:c.14C>A XP_011534327.1:p.Ala5Glu
XM_011536027.1:c.14C>A XP_011534329.1:p.Ala5Glu
NM_000056.4:c.14C>A NP_000047.1:p.Ala5Glu
NM_001318975.1:c.-15+24C>A NP_001305904.1:n.-15+24C>A
NM_183050.3:c.14C>A NP_898871.1:p.Ala5Glu
NR_134945.1:n.98C>A
XM_005248756.5:c.14C>A XP_005248813.1:p.Ala5Glu
XM_011536023.3:c.14C>A XP_011534325.1:p.Ala5Glu
XM_011536024.3:c.14C>A XP_011534326.1:p.Ala5Glu
XM_011536025.3:c.14C>A XP_011534327.1:p.Ala5Glu
XR_001743546.2:n.44C>A
XR_001743547.2:n.44C>A
XR_001743548.2:n.44C>A
XR_001743549.2:n.44C>A
XR_002956292.1:n.44C>A
NM_183050.4:c.14C>A MANE Select NP_898871.1:p.Ala5Glu
NR_134945.2:n.37C>A
NM_000056.5:c.14C>A NP_000047.1:p.Ala5Glu