Canonical Allele Identifier: CA365021353

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343667G>T , CM000668.2:g.80343667G>T	GRCh38
NC_000006.11:g.81053384G>T , CM000668.1:g.81053384G>T	GRCh37
NC_000006.10:g.81110103G>T	NCBI36
NG_009775.1:g.242041G>T
NG_009775.2:g.242041G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_183050.4:c.1042G>T MANE Select	NP_898871.1:p.Glu348Ter
ENST00000320393.9:c.1042G>T MANE Select	ENSP00000318351.5:p.Glu348Ter
NM_000056.3:c.1042G>T	NP_000047.1:p.Glu348Ter
NM_000056.4:c.1042G>T	NP_000047.1:p.Glu348Ter
NM_000056.5:c.1042G>T	NP_000047.1:p.Glu348Ter
NM_001318975.1:c.832G>T	NP_001305904.1:p.Glu278Ter
NM_183050.2:c.1042G>T	NP_898871.1:p.Glu348Ter
NM_183050.3:c.1042G>T	NP_898871.1:p.Glu348Ter
NR_134945.1:n.1220G>T
NR_134945.2:n.1159G>T
ENST00000320393.8:c.1042G>T	ENSP00000318351.5:p.Glu348Ter
ENST00000356489.9:c.1042G>T	ENSP00000348880.5:p.Glu348Ter
ENST00000491328.1:n.97G>T
XM_006715542.2:c.832G>T	XP_006715605.1:p.Glu278Ter
XM_011536024.1:c.*48G>T	XP_011534326.1:n.*48G>T
XM_011536024.3:c.*48G>T	XP_011534326.1:n.*48G>T
XM_011536026.1:c.832G>T	XP_011534328.1:p.Glu278Ter
XR_001743546.2:n.1068+70446G>T
XR_001743547.2:n.1068+70446G>T
XR_001743548.2:n.1068+70446G>T
XR_001743549.2:n.1068+70446G>T
XR_002956292.1:n.1068+70446G>T