Canonical Allele Identifier: CA2336459236

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422704C= , CM000681.2:g.41422704C=	GRCh38
NC_000019.9:g.41928609C= , CM000681.1:g.41928609C=	GRCh37
NC_000019.8:g.46620449C=	NCBI36
NG_013004.1:g.29916C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.929C= MANE Select	NP_000700.1:p.Thr310=
ENST00000269980.7:c.929C= MANE Select	ENSP00000269980.2:p.Thr310=
NM_000709.3:c.929C=	NP_000700.1:p.Thr310=
NM_001164783.1:c.926C=	NP_001158255.1:p.Thr309=
NM_001164783.2:c.926C=	NP_001158255.1:p.Thr309=
ENST00000269980.6:c.929C=	ENSP00000269980.2:p.Thr310=
ENST00000457836.6:c.863C=	ENSP00000416000.2:p.Thr288=
ENST00000535632.5:n.558C=
ENST00000540732.3:c.1031C=	ENSP00000443246.1:p.Thr344=
ENST00000542943.5:c.842C=	ENSP00000440345.1:p.Thr281=
ENST00000545787.1:n.557C=
ENST00000595085.5:c.922+7C=	ENSP00000471150.2:n.922+7C=