Canonical Allele Identifier: CA2336459208

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422648T= , CM000681.2:g.41422648T=	GRCh38
NC_000019.9:g.41928553T= , CM000681.1:g.41928553T=	GRCh37
NC_000019.8:g.46620393T=	NCBI36
NG_013004.1:g.29860T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.873T= MANE Select	ENSP00000269980.2:p.Tyr291=
ENST00000269980.6:c.873T=	ENSP00000269980.2:p.Tyr291=
ENST00000457836.6:c.807T=	ENSP00000416000.2:p.Tyr269=
ENST00000535632.5:n.502T=
ENST00000540732.3:c.975T=	ENSP00000443246.1:p.Tyr325=
ENST00000542943.5:c.786T=	ENSP00000440345.1:p.Tyr262=
ENST00000545787.1:n.501T=
ENST00000595085.5:c.873T=	ENSP00000471150.2:p.Tyr291=
NM_000709.3:c.873T=	NP_000700.1:p.Tyr291=
NM_001164783.1:c.870T=	NP_001158255.1:p.Tyr290=
NM_000709.4:c.873T= MANE Select	NP_000700.1:p.Tyr291=
NM_001164783.2:c.870T=	NP_001158255.1:p.Tyr290=