Canonical Allele Identifier: CA2336460043

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424494C= , CM000681.2:g.41424494C=	GRCh38
NC_000019.9:g.41930399C= , CM000681.1:g.41930399C=	GRCh37
NC_000019.8:g.46622239C=	NCBI36
NG_013004.1:g.31706C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1224C= MANE Select	ENSP00000269980.2:p.Leu408=
ENST00000269980.6:c.1224C=	ENSP00000269980.2:p.Leu408=
ENST00000457836.6:c.1233C=	ENSP00000416000.2:p.Leu411=
ENST00000540732.3:c.1326C=	ENSP00000443246.1:p.Leu442=
ENST00000544905.1:c.62-8C=
ENST00000595085.5:c.922+1797C=	ENSP00000471150.2:n.922+1797C=
NM_000709.3:c.1224C=	NP_000700.1:p.Leu408=
NM_001164783.1:c.1221C=	NP_001158255.1:p.Leu407=
NM_000709.4:c.1224C= MANE Select	NP_000700.1:p.Leu408=
NM_001164783.2:c.1221C=	NP_001158255.1:p.Leu407=