Canonical Allele Identifier: CA4430595

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107210540C>T , CM000669.2:g.107210540C>T	GRCh38
NC_000007.13:g.106850985C>T , CM000669.1:g.106850985C>T	GRCh37
NC_000007.12:g.106638221C>T	NCBI36
NG_028095.1:g.358975G>A
NG_028095.2:g.358975G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2361G>A MANE Select	NP_006339.4:p.Arg787=
ENST00000297135.9:c.2361G>A MANE Select	ENSP00000297135.4:p.Arg787=
NM_001161520.1:c.2454G>A	NP_001154992.1:p.Arg818=
NM_001161520.2:c.2361G>A	NP_001154992.2:p.Arg787=
NM_001379511.1:c.2199G>A	NP_001366440.1:p.Arg733=
NM_001379512.1:c.2187G>A	NP_001366441.1:p.Arg729=
NM_001379513.1:c.2169-6910G>A	NP_001366442.1:n.2169-6910G>A
NM_001379514.1:c.2046G>A	NP_001366443.1:p.Arg682=
NM_001379515.1:c.1791G>A	NP_001366444.1:p.Arg597=
NM_001379516.1:c.1647G>A	NP_001366445.1:p.Arg549=
NM_006348.3:c.2454G>A	NP_006339.3:p.Arg818=
NM_006348.4:c.2361G>A	NP_006339.4:p.Arg787=
NM_181733.2:c.2391G>A	NP_859422.2:p.Arg797=
NM_181733.3:c.2298G>A	NP_859422.3:p.Arg766=
NM_181733.4:c.2298G>A	NP_859422.3:p.Arg766=
ENST00000297135.7:c.2454G>A	ENSP00000297135.3:p.Arg818=
ENST00000347053.7:c.2391G>A	ENSP00000334703.2:p.Arg797=
ENST00000347053.8:c.2298G>A	ENSP00000334703.3:p.Arg766=
ENST00000393603.6:c.2454G>A	ENSP00000377228.2:p.Arg818=
ENST00000393603.7:c.2361G>A	ENSP00000377228.3:p.Arg787=
ENST00000464542.5:n.812G>A