Canonical Allele Identifier: CA406010931

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419216G>A , CM000681.2:g.41419216G>A	GRCh38
NC_000019.9:g.41925121G>A , CM000681.1:g.41925121G>A	GRCh37
NC_000019.8:g.46616961G>A	NCBI36
NG_013004.1:g.26428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.566G>A MANE Select	NP_000700.1:p.Arg189His
ENST00000269980.7:c.566G>A MANE Select	ENSP00000269980.2:p.Arg189His
NM_000709.3:c.566G>A	NP_000700.1:p.Arg189His
NM_001164783.1:c.566G>A	NP_001158255.1:p.Arg189His
NM_001164783.2:c.566G>A	NP_001158255.1:p.Arg189His
ENST00000269980.6:c.566G>A	ENSP00000269980.2:p.Arg189His
ENST00000457836.6:c.500G>A	ENSP00000416000.2:p.Arg167His
ENST00000535632.5:n.195G>A
ENST00000538423.5:n.692G>A
ENST00000540732.3:c.668G>A	ENSP00000443246.1:p.Arg223His
ENST00000541315.1:c.466G>A
ENST00000542943.5:c.479G>A	ENSP00000440345.1:p.Arg160His
ENST00000545787.1:n.194G>A
ENST00000595085.5:c.566G>A	ENSP00000471150.2:p.Arg189His