Canonical Allele Identifier: CA2336459261

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422751A= , CM000681.2:g.41422751A=	GRCh38
NC_000019.9:g.41928656A= , CM000681.1:g.41928656A=	GRCh37
NC_000019.8:g.46620496A=	NCBI36
NG_013004.1:g.29963A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.976A= MANE Select	ENSP00000269980.2:p.Ile326=
ENST00000269980.6:c.976A=	ENSP00000269980.2:p.Ile326=
ENST00000457836.6:c.910A=	ENSP00000416000.2:p.Ile304=
ENST00000535632.5:n.605A=
ENST00000540732.3:c.1078A=	ENSP00000443246.1:p.Ile360=
ENST00000542943.5:c.889A=	ENSP00000440345.1:p.Ile297=
ENST00000595085.5:c.922+54A=	ENSP00000471150.2:n.922+54A=
NM_000709.3:c.976A=	NP_000700.1:p.Ile326=
NM_001164783.1:c.973A=	NP_001158255.1:p.Ile325=
NM_000709.4:c.976A= MANE Select	NP_000700.1:p.Ile326=
NM_001164783.2:c.973A=	NP_001158255.1:p.Ile325=