Canonical Allele Identifier: CA9461294

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422664C>T , CM000681.2:g.41422664C>T	GRCh38
NC_000019.9:g.41928569C>T , CM000681.1:g.41928569C>T	GRCh37
NC_000019.8:g.46620409C>T	NCBI36
NG_013004.1:g.29876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.889C>T MANE Select	NP_000700.1:p.Arg297Cys
ENST00000269980.7:c.889C>T MANE Select	ENSP00000269980.2:p.Arg297Cys
NM_000709.3:c.889C>T	NP_000700.1:p.Arg297Cys
NM_001164783.1:c.886C>T	NP_001158255.1:p.Arg296Cys
NM_001164783.2:c.886C>T	NP_001158255.1:p.Arg296Cys
ENST00000269980.6:c.889C>T	ENSP00000269980.2:p.Arg297Cys
ENST00000457836.6:c.823C>T	ENSP00000416000.2:p.Arg275Cys
ENST00000535632.5:n.518C>T
ENST00000540732.3:c.991C>T	ENSP00000443246.1:p.Arg331Cys
ENST00000542943.5:c.802C>T	ENSP00000440345.1:p.Arg268Cys
ENST00000545787.1:n.517C>T
ENST00000595085.5:c.889C>T	ENSP00000471150.2:p.Arg297Cys