Canonical Allele Identifier: CA2336459254

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422741G= , CM000681.2:g.41422741G=	GRCh38
NC_000019.9:g.41928646G= , CM000681.1:g.41928646G=	GRCh37
NC_000019.8:g.46620486G=	NCBI36
NG_013004.1:g.29953G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.966G= MANE Select	ENSP00000269980.2:p.Gln322=
ENST00000269980.6:c.966G=	ENSP00000269980.2:p.Gln322=
ENST00000457836.6:c.900G=	ENSP00000416000.2:p.Gln300=
ENST00000535632.5:n.595G=
ENST00000540732.3:c.1068G=	ENSP00000443246.1:p.Gln356=
ENST00000542943.5:c.879G=	ENSP00000440345.1:p.Gln293=
ENST00000595085.5:c.922+44G=	ENSP00000471150.2:n.922+44G=
NM_000709.3:c.966G=	NP_000700.1:p.Gln322=
NM_001164783.1:c.963G=	NP_001158255.1:p.Gln321=
NM_000709.4:c.966G= MANE Select	NP_000700.1:p.Gln322=
NM_001164783.2:c.963G=	NP_001158255.1:p.Gln321=