Canonical Allele Identifier: CA2336459394

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423002G= , CM000681.2:g.41423002G=	GRCh38
NC_000019.9:g.41928907G= , CM000681.1:g.41928907G=	GRCh37
NC_000019.8:g.46620747G=	NCBI36
NG_013004.1:g.30214G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1000G= MANE Select	ENSP00000269980.2:p.Gly334=
ENST00000269980.6:c.1000G=	ENSP00000269980.2:p.Gly334=
ENST00000457836.6:c.1009G=	ENSP00000416000.2:p.Gly337=
ENST00000540732.3:c.1102G=	ENSP00000443246.1:p.Gly368=
ENST00000542943.5:c.913G=	ENSP00000440345.1:p.Gly305=
ENST00000595085.5:c.922+305G=	ENSP00000471150.2:n.922+305G=
NM_000709.3:c.1000G=	NP_000700.1:p.Gly334=
NM_001164783.1:c.997G=	NP_001158255.1:p.Gly333=
NM_000709.4:c.1000G= MANE Select	NP_000700.1:p.Gly334=
NM_001164783.2:c.997G=	NP_001158255.1:p.Gly333=