Canonical Allele Identifier: CA2336459027

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422255C= , CM000681.2:g.41422255C=	GRCh38
NC_000019.9:g.41928160C= , CM000681.1:g.41928160C=	GRCh37
NC_000019.8:g.46620000C=	NCBI36
NG_013004.1:g.29467C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.738C= MANE Select	ENSP00000269980.2:p.Ala246=
ENST00000269980.6:c.738C=	ENSP00000269980.2:p.Ala246=
ENST00000457836.6:c.672C=	ENSP00000416000.2:p.Ala224=
ENST00000535632.5:n.367C=
ENST00000540732.3:c.840C=	ENSP00000443246.1:p.Ala280=
ENST00000542943.5:c.651C=	ENSP00000440345.1:p.Ala217=
ENST00000545787.1:n.366C=
ENST00000595085.5:c.738C=	ENSP00000471150.2:p.Ala246=
NM_000709.3:c.738C=	NP_000700.1:p.Ala246=
NM_001164783.1:c.738C=	NP_001158255.1:p.Ala246=
NM_000709.4:c.738C= MANE Select	NP_000700.1:p.Ala246=
NM_001164783.2:c.738C=	NP_001158255.1:p.Ala246=