Canonical Allele Identifier: CA2336460091

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424594C= , CM000681.2:g.41424594C=	GRCh38
NC_000019.9:g.41930499C= , CM000681.1:g.41930499C=	GRCh37
NC_000019.8:g.46622339C=	NCBI36
NG_013004.1:g.31806C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1324C= MANE Select	ENSP00000269980.2:p.His442=
ENST00000269980.6:c.1324C=	ENSP00000269980.2:p.His442=
ENST00000457836.6:c.1333C=	ENSP00000416000.2:p.His445=
ENST00000540732.3:c.1426C=	ENSP00000443246.1:p.His476=
ENST00000544905.1:c.154C=
ENST00000595085.5:c.922+1897C=	ENSP00000471150.2:n.922+1897C=
NM_000709.3:c.1324C=	NP_000700.1:p.His442=
NM_001164783.1:c.1321C=	NP_001158255.1:p.His441=
NM_000709.4:c.1324C= MANE Select	NP_000700.1:p.His442=
NM_001164783.2:c.1321C=	NP_001158255.1:p.His441=