Canonical Allele Identifier: CA2336458911

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422032G= , CM000681.2:g.41422032G=	GRCh38
NC_000019.9:g.41927937G= , CM000681.1:g.41927937G=	GRCh37
NC_000019.8:g.46619777G=	NCBI36
NG_013004.1:g.29244G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-132G= MANE Select	ENSP00000269980.2:n.647-132G=
ENST00000269980.6:c.647-132G=	ENSP00000269980.2:n.647-132G=
ENST00000457836.6:c.581-132G=	ENSP00000416000.2:n.581-132G=
ENST00000535632.5:n.276-132G=
ENST00000538423.5:n.773-132G=
ENST00000540732.3:c.749-132G=	ENSP00000443246.1:n.749-132G=
ENST00000541315.1:c.547-132G=
ENST00000542943.5:c.560-132G=	ENSP00000440345.1:n.560-132G=
ENST00000545787.1:n.275-132G=
ENST00000595085.5:c.647-132G=	ENSP00000471150.2:n.647-132G=
NM_000709.3:c.647-132G=	NP_000700.1:n.647-132G=
NM_001164783.1:c.647-132G=	NP_001158255.1:n.647-132G=
NM_000709.4:c.647-132G= MANE Select	NP_000700.1:n.647-132G=
NM_001164783.2:c.647-132G=	NP_001158255.1:n.647-132G=