Canonical Allele Identifier: CA2336459026

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422254C= , CM000681.2:g.41422254C=	GRCh38
NC_000019.9:g.41928159C= , CM000681.1:g.41928159C=	GRCh37
NC_000019.8:g.46619999C=	NCBI36
NG_013004.1:g.29466C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.737C= MANE Select	ENSP00000269980.2:p.Ala246=
ENST00000269980.6:c.737C=	ENSP00000269980.2:p.Ala246=
ENST00000457836.6:c.671C=	ENSP00000416000.2:p.Ala224=
ENST00000535632.5:n.366C=
ENST00000540732.3:c.839C=	ENSP00000443246.1:p.Ala280=
ENST00000542943.5:c.650C=	ENSP00000440345.1:p.Ala217=
ENST00000545787.1:n.365C=
ENST00000595085.5:c.737C=	ENSP00000471150.2:p.Ala246=
NM_000709.3:c.737C=	NP_000700.1:p.Ala246=
NM_001164783.1:c.737C=	NP_001158255.1:p.Ala246=
NM_000709.4:c.737C= MANE Select	NP_000700.1:p.Ala246=
NM_001164783.2:c.737C=	NP_001158255.1:p.Ala246=