Canonical Allele Identifier: CA2336458980

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422173C= , CM000681.2:g.41422173C=	GRCh38
NC_000019.9:g.41928078C= , CM000681.1:g.41928078C=	GRCh37
NC_000019.8:g.46619918C=	NCBI36
NG_013004.1:g.29385C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.656C= MANE Select	ENSP00000269980.2:p.Ala219=
ENST00000269980.6:c.656C=	ENSP00000269980.2:p.Ala219=
ENST00000457836.6:c.590C=	ENSP00000416000.2:p.Ala197=
ENST00000535632.5:n.285C=
ENST00000538423.5:n.782C=
ENST00000540732.3:c.758C=	ENSP00000443246.1:p.Ala253=
ENST00000541315.1:c.556C=
ENST00000542943.5:c.569C=	ENSP00000440345.1:p.Ala190=
ENST00000545787.1:n.284C=
ENST00000595085.5:c.656C=	ENSP00000471150.2:p.Ala219=
NM_000709.3:c.656C=	NP_000700.1:p.Ala219=
NM_001164783.1:c.656C=	NP_001158255.1:p.Ala219=
NM_000709.4:c.656C= MANE Select	NP_000700.1:p.Ala219=
NM_001164783.2:c.656C=	NP_001158255.1:p.Ala219=