Canonical Allele Identifier: CA2336459239

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422714C= , CM000681.2:g.41422714C=	GRCh38
NC_000019.9:g.41928619C= , CM000681.1:g.41928619C=	GRCh37
NC_000019.8:g.46620459C=	NCBI36
NG_013004.1:g.29926C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.939C= MANE Select	ENSP00000269980.2:p.Ala313=
ENST00000269980.6:c.939C=	ENSP00000269980.2:p.Ala313=
ENST00000457836.6:c.873C=	ENSP00000416000.2:p.Ala291=
ENST00000535632.5:n.568C=
ENST00000540732.3:c.1041C=	ENSP00000443246.1:p.Ala347=
ENST00000542943.5:c.852C=	ENSP00000440345.1:p.Ala284=
ENST00000545787.1:n.567C=
ENST00000595085.5:c.922+17C=	ENSP00000471150.2:n.922+17C=
NM_000709.3:c.939C=	NP_000700.1:p.Ala313=
NM_001164783.1:c.936C=	NP_001158255.1:p.Ala312=
NM_000709.4:c.939C= MANE Select	NP_000700.1:p.Ala313=
NM_001164783.2:c.936C=	NP_001158255.1:p.Ala312=