Canonical Allele Identifier: CA2336459260

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422750C= , CM000681.2:g.41422750C=	GRCh38
NC_000019.9:g.41928655C= , CM000681.1:g.41928655C=	GRCh37
NC_000019.8:g.46620495C=	NCBI36
NG_013004.1:g.29962C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.975C= MANE Select	ENSP00000269980.2:p.Leu325=
ENST00000269980.6:c.975C=	ENSP00000269980.2:p.Leu325=
ENST00000457836.6:c.909C=	ENSP00000416000.2:p.Leu303=
ENST00000535632.5:n.604C=
ENST00000540732.3:c.1077C=	ENSP00000443246.1:p.Leu359=
ENST00000542943.5:c.888C=	ENSP00000440345.1:p.Leu296=
ENST00000595085.5:c.922+53C=	ENSP00000471150.2:n.922+53C=
NM_000709.3:c.975C=	NP_000700.1:p.Leu325=
NM_001164783.1:c.972C=	NP_001158255.1:p.Leu324=
NM_000709.4:c.975C= MANE Select	NP_000700.1:p.Leu325=
NM_001164783.2:c.972C=	NP_001158255.1:p.Leu324=