Canonical Allele Identifier: CA1641009957

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343887C= , CM000668.2:g.80343887C=	GRCh38
NC_000006.11:g.81053604C= , CM000668.1:g.81053604C=	GRCh37
NC_000006.10:g.81110323C=	NCBI36
NG_009775.1:g.242261C=
NG_009775.2:g.242261C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*83C= MANE Select	ENSP00000318351.5:n.*83C=
ENST00000320393.8:c.*83C=	ENSP00000318351.5:n.*83C=
ENST00000356489.9:c.*8+75C=	ENSP00000348880.5:n.*8+75C=
ENST00000491328.1:n.242+75C=
NM_000056.3:c.*8+75C=	NP_000047.1:n.*8+75C=
NM_183050.2:c.*83C=	NP_898871.1:n.*83C=
NM_000056.4:c.*8+75C=	NP_000047.1:n.*8+75C=
NM_001318975.1:c.*83C=	NP_001305904.1:n.*83C=
NM_183050.3:c.*83C=	NP_898871.1:n.*83C=
NR_134945.1:n.1440C=
XM_011536024.3:c.*268C=	XP_011534326.1:n.*268C=
XR_001743546.2:n.1068+70666C=
XR_001743547.2:n.1068+70666C=
XR_001743548.2:n.1068+70666C=
XR_001743549.2:n.1068+70666C=
XR_002956292.1:n.1068+70666C=
NM_183050.4:c.*83C= MANE Select	NP_898871.1:n.*83C=
NR_134945.2:n.1379C=
NM_000056.5:c.*8+75C=	NP_000047.1:n.*8+75C=