Canonical Allele Identifier: CA1640908581

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106655T= , CM000668.2:g.80106655T=	GRCh38
NC_000006.11:g.80816372T= , CM000668.1:g.80816372T=	GRCh37
NC_000006.10:g.80873091T=	NCBI36
NG_009775.1:g.5029T=
NG_009775.2:g.5029T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-39T=	ENSP00000318351.5:n.-39T=
ENST00000356489.9:c.-39T=	ENSP00000348880.5:n.-39T=
ENST00000369760.8:c.-39T=	ENSP00000358775.4:n.-39T=
NM_000056.3:c.-39T=	NP_000047.1:n.-39T=
NM_183050.2:c.-39T=	NP_898871.1:n.-39T=
XM_006715542.2:c.-43T=	XP_006715605.1:n.-43T=
NM_000056.4:c.-39T=	NP_000047.1:n.-39T=
NM_001318975.1:c.-43T=	NP_001305904.1:n.-43T=
NM_183050.3:c.-39T=	NP_898871.1:n.-39T=
NR_134945.1:n.46T=