Canonical Allele Identifier: CA2336459405

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423032G= , CM000681.2:g.41423032G=	GRCh38
NC_000019.9:g.41928937G= , CM000681.1:g.41928937G=	GRCh37
NC_000019.8:g.46620777G=	NCBI36
NG_013004.1:g.30244G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1030G= MANE Select	ENSP00000269980.2:p.Ala344=
ENST00000269980.6:c.1030G=	ENSP00000269980.2:p.Ala344=
ENST00000457836.6:c.1039G=	ENSP00000416000.2:p.Ala347=
ENST00000540732.3:c.1132G=	ENSP00000443246.1:p.Ala378=
ENST00000542943.5:c.943G=	ENSP00000440345.1:p.Ala315=
ENST00000595085.5:c.922+335G=	ENSP00000471150.2:n.922+335G=
NM_000709.3:c.1030G=	NP_000700.1:p.Ala344=
NM_001164783.1:c.1027G=	NP_001158255.1:p.Ala343=
NM_000709.4:c.1030G= MANE Select	NP_000700.1:p.Ala344=
NM_001164783.2:c.1027G=	NP_001158255.1:p.Ala343=