Canonical Allele Identifier: CA2336459232

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422698A= , CM000681.2:g.41422698A=	GRCh38
NC_000019.9:g.41928603A= , CM000681.1:g.41928603A=	GRCh37
NC_000019.8:g.46620443A=	NCBI36
NG_013004.1:g.29910A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.923A= MANE Select	ENSP00000269980.2:p.Asn308=
ENST00000269980.6:c.923A=	ENSP00000269980.2:p.Asn308=
ENST00000457836.6:c.857A=	ENSP00000416000.2:p.Asn286=
ENST00000535632.5:n.552A=
ENST00000540732.3:c.1025A=	ENSP00000443246.1:p.Asn342=
ENST00000542943.5:c.836A=	ENSP00000440345.1:p.Asn279=
ENST00000545787.1:n.551A=
ENST00000595085.5:c.922+1A=	ENSP00000471150.2:n.922+1A=
NM_000709.3:c.923A=	NP_000700.1:p.Asn308=
NM_001164783.1:c.920A=	NP_001158255.1:p.Asn307=
NM_000709.4:c.923A= MANE Select	NP_000700.1:p.Asn308=
NM_001164783.2:c.920A=	NP_001158255.1:p.Asn307=