Canonical Allele Identifier: CA2336459081

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422370G= , CM000681.2:g.41422370G=	GRCh38
NC_000019.9:g.41928275G= , CM000681.1:g.41928275G=	GRCh37
NC_000019.8:g.46620115G=	NCBI36
NG_013004.1:g.29582G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.853G= MANE Select	ENSP00000269980.2:p.Ala285=
ENST00000269980.6:c.853G=	ENSP00000269980.2:p.Ala285=
ENST00000457836.6:c.787G=	ENSP00000416000.2:p.Ala263=
ENST00000535632.5:n.482G=
ENST00000540732.3:c.955G=	ENSP00000443246.1:p.Ala319=
ENST00000542943.5:c.766G=	ENSP00000440345.1:p.Ala256=
ENST00000545787.1:n.481G=
ENST00000595085.5:c.853G=	ENSP00000471150.2:p.Ala285=
NM_000709.3:c.853G=	NP_000700.1:p.Ala285=
NM_001164783.1:c.853G=	NP_001158255.1:p.Ala285=
NM_000709.4:c.853G= MANE Select	NP_000700.1:p.Ala285=
NM_001164783.2:c.853G=	NP_001158255.1:p.Ala285=