Canonical Allele Identifier: CA1641009881

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343819A= , CM000668.2:g.80343819A=	GRCh38
NC_000006.11:g.81053536A= , CM000668.1:g.81053536A=	GRCh37
NC_000006.10:g.81110255A=	NCBI36
NG_009775.1:g.242193A=
NG_009775.2:g.242193A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*15A= MANE Select	ENSP00000318351.5:n.*15A=
ENST00000320393.8:c.*15A=	ENSP00000318351.5:n.*15A=
ENST00000356489.9:c.*8+7A=	ENSP00000348880.5:n.*8+7A=
ENST00000491328.1:n.242+7A=
NM_000056.3:c.*8+7A=	NP_000047.1:n.*8+7A=
NM_183050.2:c.*15A=	NP_898871.1:n.*15A=
NM_000056.4:c.*8+7A=	NP_000047.1:n.*8+7A=
NM_001318975.1:c.*15A=	NP_001305904.1:n.*15A=
NM_183050.3:c.*15A=	NP_898871.1:n.*15A=
NR_134945.1:n.1372A=
XM_011536024.3:c.*200A=	XP_011534326.1:n.*200A=
XR_001743546.2:n.1068+70598A=
XR_001743547.2:n.1068+70598A=
XR_001743548.2:n.1068+70598A=
XR_001743549.2:n.1068+70598A=
XR_002956292.1:n.1068+70598A=
NM_183050.4:c.*15A= MANE Select	NP_898871.1:n.*15A=
NR_134945.2:n.1311A=
NM_000056.5:c.*8+7A=	NP_000047.1:n.*8+7A=