Canonical Allele Identifier: CA406013517

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422756G>C , CM000681.2:g.41422756G>C	GRCh38
NC_000019.9:g.41928661G>C , CM000681.1:g.41928661G>C	GRCh37
NC_000019.8:g.46620501G>C	NCBI36
NG_013004.1:g.29968G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.981G>C MANE Select	NP_000700.1:p.Glu327Asp
ENST00000269980.7:c.981G>C MANE Select	ENSP00000269980.2:p.Glu327Asp
NM_000709.3:c.981G>C	NP_000700.1:p.Glu327Asp
NM_001164783.1:c.978G>C	NP_001158255.1:p.Glu326Asp
NM_001164783.2:c.978G>C	NP_001158255.1:p.Glu326Asp
ENST00000269980.6:c.981G>C	ENSP00000269980.2:p.Glu327Asp
ENST00000457836.6:c.915G>C	ENSP00000416000.2:p.Glu305Asp
ENST00000535632.5:n.610G>C
ENST00000540732.3:c.1083G>C	ENSP00000443246.1:p.Glu361Asp
ENST00000542943.5:c.894G>C	ENSP00000440345.1:p.Glu298Asp
ENST00000595085.5:c.922+59G>C	ENSP00000471150.2:n.922+59G>C