Canonical Allele Identifier: CA10604119

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419215C>T , CM000681.2:g.41419215C>T	GRCh38
NC_000019.9:g.41925120C>T , CM000681.1:g.41925120C>T	GRCh37
NC_000019.8:g.46616960C>T	NCBI36
NG_013004.1:g.26427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.565C>T MANE Select	ENSP00000269980.2:p.Arg189Cys
ENST00000269980.6:c.565C>T	ENSP00000269980.2:p.Arg189Cys
ENST00000457836.6:c.499C>T	ENSP00000416000.2:p.Arg167Cys
ENST00000535632.5:n.194C>T
ENST00000538423.5:n.691C>T
ENST00000540732.3:c.667C>T	ENSP00000443246.1:p.Arg223Cys
ENST00000541315.1:c.465C>T
ENST00000542943.5:c.478C>T	ENSP00000440345.1:p.Arg160Cys
ENST00000545787.1:n.193C>T
ENST00000595085.5:c.565C>T	ENSP00000471150.2:p.Arg189Cys
NM_000709.3:c.565C>T	NP_000700.1:p.Arg189Cys
NM_001164783.1:c.565C>T	NP_001158255.1:p.Arg189Cys
NM_000709.4:c.565C>T MANE Select	NP_000700.1:p.Arg189Cys
NM_001164783.2:c.565C>T	NP_001158255.1:p.Arg189Cys