Canonical Allele Identifier: CA6958530

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39689815G>A , CM000675.2:g.39689815G>A	GRCh38
NC_000013.10:g.40263952G>A , CM000675.1:g.40263952G>A	GRCh37
NC_000013.9:g.39161952G>A	NCBI36
NG_028352.1:g.39189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.1065G>A MANE Select	ENSP00000397441.2:p.Arg355=
ENST00000356576.8:c.*902G>A	ENSP00000348983.4:n.*902G>A
ENST00000416691.5:c.1065G>A	ENSP00000403733.1:p.Arg355=
ENST00000455146.7:c.1065G>A	ENSP00000397441.2:p.Arg355=
ENST00000460701.1:n.313G>A
NM_001145079.1:c.1065G>A	NP_001138551.1:p.Arg355=
NM_020751.2:c.1065G>A	NP_065802.1:p.Arg355=
NR_026745.1:n.1230G>A
XM_011535168.1:c.1065G>A	XP_011533470.1:p.Arg355=
XM_011535169.1:c.909G>A	XP_011533471.1:p.Arg303=
XM_011535170.1:c.909G>A	XP_011533472.1:p.Arg303=
NM_020751.3:c.1065G>A MANE Select	NP_065802.1:p.Arg355=
NM_001145079.2:c.1065G>A	NP_001138551.1:p.Arg355=