Canonical Allele Identifier: CA2336457611

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419282C= , CM000681.2:g.41419282C=	GRCh38
NC_000019.9:g.41925187C= , CM000681.1:g.41925187C=	GRCh37
NC_000019.8:g.46617027C=	NCBI36
NG_013004.1:g.26494C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.632C= MANE Select	NP_000700.1:p.Thr211=
ENST00000269980.7:c.632C= MANE Select	ENSP00000269980.2:p.Thr211=
NM_000709.3:c.632C=	NP_000700.1:p.Thr211=
NM_001164783.1:c.632C=	NP_001158255.1:p.Thr211=
NM_001164783.2:c.632C=	NP_001158255.1:p.Thr211=
ENST00000269980.6:c.632C=	ENSP00000269980.2:p.Thr211=
ENST00000457836.6:c.566C=	ENSP00000416000.2:p.Thr189=
ENST00000535632.5:n.261C=
ENST00000538423.5:n.758C=
ENST00000540732.3:c.734C=	ENSP00000443246.1:p.Thr245=
ENST00000541315.1:c.532C=
ENST00000542943.5:c.545C=	ENSP00000440345.1:p.Thr182=
ENST00000545787.1:n.260C=
ENST00000595085.5:c.632C=	ENSP00000471150.2:p.Thr211=