Canonical Allele Identifier: CA2336457618

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419294A= , CM000681.2:g.41419294A=	GRCh38
NC_000019.9:g.41925199A= , CM000681.1:g.41925199A=	GRCh37
NC_000019.8:g.46617039A=	NCBI36
NG_013004.1:g.26506A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.644A= MANE Select	ENSP00000269980.2:p.Gln215=
ENST00000269980.6:c.644A=	ENSP00000269980.2:p.Gln215=
ENST00000457836.6:c.578A=	ENSP00000416000.2:p.Gln193=
ENST00000535632.5:n.273A=
ENST00000538423.5:n.770A=
ENST00000540732.3:c.746A=	ENSP00000443246.1:p.Gln249=
ENST00000541315.1:c.544A=
ENST00000542943.5:c.557A=	ENSP00000440345.1:p.Gln186=
ENST00000545787.1:n.272A=
ENST00000595085.5:c.644A=	ENSP00000471150.2:p.Gln215=
NM_000709.3:c.644A=	NP_000700.1:p.Gln215=
NM_001164783.1:c.644A=	NP_001158255.1:p.Gln215=
NM_000709.4:c.644A= MANE Select	NP_000700.1:p.Gln215=
NM_001164783.2:c.644A=	NP_001158255.1:p.Gln215=