Canonical Allele Identifier: CA6958429

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39682206G>A , CM000675.2:g.39682206G>A	GRCh38
NC_000013.10:g.40256343G>A , CM000675.1:g.40256343G>A	GRCh37
NC_000013.9:g.39154343G>A	NCBI36
NG_028352.1:g.31580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.730G>A MANE Select	ENSP00000397441.2:p.Val244Ile
ENST00000356576.8:c.*567G>A	ENSP00000348983.4:n.*567G>A
ENST00000416691.5:c.730G>A	ENSP00000403733.1:p.Val244Ile
ENST00000455146.7:c.730G>A	ENSP00000397441.2:p.Val244Ile
ENST00000465775.1:n.486G>A
ENST00000536488.5:c.462G>A
ENST00000537156.1:n.381G>A
NM_001145079.1:c.730G>A	NP_001138551.1:p.Val244Ile
NM_020751.2:c.730G>A	NP_065802.1:p.Val244Ile
NR_026745.1:n.895G>A
XM_011535168.1:c.730G>A	XP_011533470.1:p.Val244Ile
XM_011535169.1:c.574G>A	XP_011533471.1:p.Val192Ile
XM_011535170.1:c.574G>A	XP_011533472.1:p.Val192Ile
NM_020751.3:c.730G>A MANE Select	NP_065802.1:p.Val244Ile
NM_001145079.2:c.730G>A	NP_001138551.1:p.Val244Ile