Canonical Allele Identifier: CA1640908580

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106654G= , CM000668.2:g.80106654G=	GRCh38
NC_000006.11:g.80816371G= , CM000668.1:g.80816371G=	GRCh37
NC_000006.10:g.80873090G=	NCBI36
NG_009775.1:g.5028G=
NG_009775.2:g.5028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-40G=	ENSP00000318351.5:n.-40G=
ENST00000356489.9:c.-40G=	ENSP00000348880.5:n.-40G=
ENST00000369760.8:c.-40G=	ENSP00000358775.4:n.-40G=
NM_000056.3:c.-40G=	NP_000047.1:n.-40G=
NM_183050.2:c.-40G=	NP_898871.1:n.-40G=
XM_006715542.2:c.-44G=	XP_006715605.1:n.-44G=
NM_000056.4:c.-40G=	NP_000047.1:n.-40G=
NM_001318975.1:c.-44G=	NP_001305904.1:n.-44G=
NM_183050.3:c.-40G=	NP_898871.1:n.-40G=
NR_134945.1:n.45G=