Canonical Allele Identifier: CA2336459037

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422272T= , CM000681.2:g.41422272T=	GRCh38
NC_000019.9:g.41928177T= , CM000681.1:g.41928177T=	GRCh37
NC_000019.8:g.46620017T=	NCBI36
NG_013004.1:g.29484T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.755T= MANE Select	ENSP00000269980.2:p.Phe252=
ENST00000269980.6:c.755T=	ENSP00000269980.2:p.Phe252=
ENST00000457836.6:c.689T=	ENSP00000416000.2:p.Phe230=
ENST00000535632.5:n.384T=
ENST00000540732.3:c.857T=	ENSP00000443246.1:p.Phe286=
ENST00000542943.5:c.668T=	ENSP00000440345.1:p.Phe223=
ENST00000545787.1:n.383T=
ENST00000595085.5:c.755T=	ENSP00000471150.2:p.Phe252=
NM_000709.3:c.755T=	NP_000700.1:p.Phe252=
NM_001164783.1:c.755T=	NP_001158255.1:p.Phe252=
NM_000709.4:c.755T= MANE Select	NP_000700.1:p.Phe252=
NM_001164783.2:c.755T=	NP_001158255.1:p.Phe252=