Canonical Allele Identifier: CA368939017

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107230615C>T , CM000669.2:g.107230615C>T	GRCh38
NC_000007.13:g.106871060C>T , CM000669.1:g.106871060C>T	GRCh37
NC_000007.12:g.106658296C>T	NCBI36
NG_028095.1:g.338900G>A
NG_028095.2:g.338900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297135.9:c.2168G>A MANE Select	ENSP00000297135.4:p.Arg723Lys
ENST00000347053.8:c.2105G>A	ENSP00000334703.3:p.Arg702Lys
ENST00000393603.7:c.2168G>A	ENSP00000377228.3:p.Arg723Lys
ENST00000297135.7:c.2261G>A	ENSP00000297135.3:p.Arg754Lys
ENST00000347053.7:c.2198G>A	ENSP00000334703.2:p.Arg733Lys
ENST00000393603.6:c.2261G>A	ENSP00000377228.2:p.Arg754Lys
ENST00000464542.5:n.619G>A
NM_001161520.1:c.2261G>A	NP_001154992.1:p.Arg754Lys
NM_006348.3:c.2261G>A	NP_006339.3:p.Arg754Lys
NM_181733.2:c.2198G>A	NP_859422.2:p.Arg733Lys
XR_927847.1:n.485-3467C>T
NM_001161520.2:c.2168G>A	NP_001154992.2:p.Arg723Lys
NM_006348.4:c.2168G>A	NP_006339.4:p.Arg723Lys
NM_181733.3:c.2105G>A	NP_859422.3:p.Arg702Lys
NM_001379511.1:c.2006G>A	NP_001366440.1:p.Arg669Lys
NM_001379512.1:c.1994G>A	NP_001366441.1:p.Arg665Lys
NM_001379513.1:c.2168G>A	NP_001366442.1:p.Arg723Lys
NM_001379514.1:c.1853+17781G>A	NP_001366443.1:n.1853+17781G>A
NM_001379515.1:c.1598G>A	NP_001366444.1:p.Arg533Lys
NM_001379516.1:c.1454G>A	NP_001366445.1:p.Arg485Lys
NM_006348.5:c.2168G>A MANE Select	NP_006339.4:p.Arg723Lys
NM_181733.4:c.2105G>A	NP_859422.3:p.Arg702Lys