Canonical Allele Identifier: CA2336460060

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424530C= , CM000681.2:g.41424530C=	GRCh38
NC_000019.9:g.41930435C= , CM000681.1:g.41930435C=	GRCh37
NC_000019.8:g.46622275C=	NCBI36
NG_013004.1:g.31742C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1260C= MANE Select	ENSP00000269980.2:p.Leu420=
ENST00000269980.6:c.1260C=	ENSP00000269980.2:p.Leu420=
ENST00000457836.6:c.1269C=	ENSP00000416000.2:p.Leu423=
ENST00000540732.3:c.1362C=	ENSP00000443246.1:p.Leu454=
ENST00000544905.1:c.90C=
ENST00000595085.5:c.922+1833C=	ENSP00000471150.2:n.922+1833C=
NM_000709.3:c.1260C=	NP_000700.1:p.Leu420=
NM_001164783.1:c.1257C=	NP_001158255.1:p.Leu419=
NM_000709.4:c.1260C= MANE Select	NP_000700.1:p.Leu420=
NM_001164783.2:c.1257C=	NP_001158255.1:p.Leu419=