Canonical Allele Identifier: CA2336458981

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422174G= , CM000681.2:g.41422174G=	GRCh38
NC_000019.9:g.41928079G= , CM000681.1:g.41928079G=	GRCh37
NC_000019.8:g.46619919G=	NCBI36
NG_013004.1:g.29386G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.657G= MANE Select	ENSP00000269980.2:p.Ala219=
ENST00000269980.6:c.657G=	ENSP00000269980.2:p.Ala219=
ENST00000457836.6:c.591G=	ENSP00000416000.2:p.Ala197=
ENST00000535632.5:n.286G=
ENST00000538423.5:n.783G=
ENST00000540732.3:c.759G=	ENSP00000443246.1:p.Ala253=
ENST00000541315.1:c.557G=
ENST00000542943.5:c.570G=	ENSP00000440345.1:p.Ala190=
ENST00000545787.1:n.285G=
ENST00000595085.5:c.657G=	ENSP00000471150.2:p.Ala219=
NM_000709.3:c.657G=	NP_000700.1:p.Ala219=
NM_001164783.1:c.657G=	NP_001158255.1:p.Ala219=
NM_000709.4:c.657G= MANE Select	NP_000700.1:p.Ala219=
NM_001164783.2:c.657G=	NP_001158255.1:p.Ala219=