Canonical Allele Identifier: CA6958269

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39660809G>A , CM000675.2:g.39660809G>A	GRCh38
NC_000013.10:g.40234946G>A , CM000675.1:g.40234946G>A	GRCh37
NC_000013.9:g.39132946G>A	NCBI36
NG_028352.1:g.10183G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.298-1G>A MANE Select	NP_065802.1:n.298-1G>A
ENST00000455146.8:c.298-1G>A MANE Select	ENSP00000397441.2:n.298-1G>A
NM_001145079.1:c.298-1G>A	NP_001138551.1:n.298-1G>A
NM_001145079.2:c.298-1G>A	NP_001138551.1:n.298-1G>A
NM_020751.2:c.298-1G>A	NP_065802.1:n.298-1G>A
NR_026745.1:n.463-1G>A
ENST00000356576.8:c.*135-1G>A	ENSP00000348983.4:n.*135-1G>A
ENST00000416691.5:c.298-1G>A	ENSP00000403733.1:n.298-1G>A
ENST00000422759.6:n.363-1G>A
ENST00000455146.7:c.298-1G>A	ENSP00000397441.2:n.298-1G>A
ENST00000536488.5:c.113-1G>A
ENST00000543804.5:c.*59-1G>A	ENSP00000440473.1:n.*59-1G>A
XM_011535168.1:c.298-1G>A	XP_011533470.1:n.298-1G>A
XM_011535169.1:c.142-1G>A	XP_011533471.1:n.142-1G>A
XM_011535170.1:c.142-1G>A	XP_011533472.1:n.142-1G>A