Canonical Allele Identifier: CA2336459402

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423028T= , CM000681.2:g.41423028T=	GRCh38
NC_000019.9:g.41928933T= , CM000681.1:g.41928933T=	GRCh37
NC_000019.8:g.46620773T=	NCBI36
NG_013004.1:g.30240T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1026T= MANE Select	ENSP00000269980.2:p.Ser342=
ENST00000269980.6:c.1026T=	ENSP00000269980.2:p.Ser342=
ENST00000457836.6:c.1035T=	ENSP00000416000.2:p.Ser345=
ENST00000540732.3:c.1128T=	ENSP00000443246.1:p.Ser376=
ENST00000542943.5:c.939T=	ENSP00000440345.1:p.Ser313=
ENST00000595085.5:c.922+331T=	ENSP00000471150.2:n.922+331T=
NM_000709.3:c.1026T=	NP_000700.1:p.Ser342=
NM_001164783.1:c.1023T=	NP_001158255.1:p.Ser341=
NM_000709.4:c.1026T= MANE Select	NP_000700.1:p.Ser342=
NM_001164783.2:c.1023T=	NP_001158255.1:p.Ser341=