Canonical Allele Identifier: CA368839778

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107211131T>A , CM000669.2:g.107211131T>A	GRCh38
NC_000007.13:g.106851576T>A , CM000669.1:g.106851576T>A	GRCh37
NC_000007.12:g.106638812T>A	NCBI36
NG_028095.1:g.358384A>T
NG_028095.2:g.358384A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2263A>T MANE Select	NP_006339.4:p.Arg755Ter
ENST00000297135.9:c.2263A>T MANE Select	ENSP00000297135.4:p.Arg755Ter
NM_001161520.1:c.2356A>T	NP_001154992.1:p.Arg786Ter
NM_001161520.2:c.2263A>T	NP_001154992.2:p.Arg755Ter
NM_001379511.1:c.2101A>T	NP_001366440.1:p.Arg701Ter
NM_001379512.1:c.2089A>T	NP_001366441.1:p.Arg697Ter
NM_001379513.1:c.2169-7501A>T	NP_001366442.1:n.2169-7501A>T
NM_001379514.1:c.1948A>T	NP_001366443.1:p.Arg650Ter
NM_001379515.1:c.1693A>T	NP_001366444.1:p.Arg565Ter
NM_001379516.1:c.1549A>T	NP_001366445.1:p.Arg517Ter
NM_006348.3:c.2356A>T	NP_006339.3:p.Arg786Ter
NM_006348.4:c.2263A>T	NP_006339.4:p.Arg755Ter
NM_181733.2:c.2293A>T	NP_859422.2:p.Arg765Ter
NM_181733.3:c.2200A>T	NP_859422.3:p.Arg734Ter
NM_181733.4:c.2200A>T	NP_859422.3:p.Arg734Ter
ENST00000297135.7:c.2356A>T	ENSP00000297135.3:p.Arg786Ter
ENST00000347053.7:c.2293A>T	ENSP00000334703.2:p.Arg765Ter
ENST00000347053.8:c.2200A>T	ENSP00000334703.3:p.Arg734Ter
ENST00000393603.6:c.2356A>T	ENSP00000377228.2:p.Arg786Ter
ENST00000393603.7:c.2263A>T	ENSP00000377228.3:p.Arg755Ter
ENST00000464542.5:n.714A>T