Canonical Allele Identifier: CA221176

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423038C>T , CM000681.2:g.41423038C>T	GRCh38
NC_000019.9:g.41928943C>T , CM000681.1:g.41928943C>T	GRCh37
NC_000019.8:g.46620783C>T	NCBI36
NG_013004.1:g.30250C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1036C>T MANE Select	NP_000700.1:p.Arg346Cys
ENST00000269980.7:c.1036C>T MANE Select	ENSP00000269980.2:p.Arg346Cys
NM_000709.3:c.1036C>T	NP_000700.1:p.Arg346Cys
NM_001164783.1:c.1033C>T	NP_001158255.1:p.Arg345Cys
NM_001164783.2:c.1033C>T	NP_001158255.1:p.Arg345Cys
ENST00000269980.6:c.1036C>T	ENSP00000269980.2:p.Arg346Cys
ENST00000457836.6:c.1045C>T	ENSP00000416000.2:p.Arg349Cys
ENST00000540732.3:c.1138C>T	ENSP00000443246.1:p.Arg380Cys
ENST00000542943.5:c.949C>T	ENSP00000440345.1:p.Arg317Cys
ENST00000595085.5:c.922+341C>T	ENSP00000471150.2:n.922+341C>T