Canonical Allele Identifier: CA2336458914

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422036T= , CM000681.2:g.41422036T=	GRCh38
NC_000019.9:g.41927941T= , CM000681.1:g.41927941T=	GRCh37
NC_000019.8:g.46619781T=	NCBI36
NG_013004.1:g.29248T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.647-128T= MANE Select	ENSP00000269980.2:n.647-128T=
ENST00000269980.6:c.647-128T=	ENSP00000269980.2:n.647-128T=
ENST00000457836.6:c.581-128T=	ENSP00000416000.2:n.581-128T=
ENST00000535632.5:n.276-128T=
ENST00000538423.5:n.773-128T=
ENST00000540732.3:c.749-128T=	ENSP00000443246.1:n.749-128T=
ENST00000541315.1:c.547-128T=
ENST00000542943.5:c.560-128T=	ENSP00000440345.1:n.560-128T=
ENST00000545787.1:n.275-128T=
ENST00000595085.5:c.647-128T=	ENSP00000471150.2:n.647-128T=
NM_000709.3:c.647-128T=	NP_000700.1:n.647-128T=
NM_001164783.1:c.647-128T=	NP_001158255.1:n.647-128T=
NM_000709.4:c.647-128T= MANE Select	NP_000700.1:n.647-128T=
NM_001164783.2:c.647-128T=	NP_001158255.1:n.647-128T=