Canonical Allele Identifier: CA457094323

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107210555T>A , CM000669.2:g.107210555T>A	GRCh38
NC_000007.13:g.106851000T>A , CM000669.1:g.106851000T>A	GRCh37
NC_000007.12:g.106638236T>A	NCBI36
NG_028095.1:g.358960A>T
NG_028095.2:g.358960A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2346A>T MANE Select	NP_006339.4:p.Pro782=
ENST00000297135.9:c.2346A>T MANE Select	ENSP00000297135.4:p.Pro782=
NM_001161520.1:c.2439A>T	NP_001154992.1:p.Pro813=
NM_001161520.2:c.2346A>T	NP_001154992.2:p.Pro782=
NM_001379511.1:c.2184A>T	NP_001366440.1:p.Pro728=
NM_001379512.1:c.2172A>T	NP_001366441.1:p.Pro724=
NM_001379513.1:c.2169-6925A>T	NP_001366442.1:n.2169-6925A>T
NM_001379514.1:c.2031A>T	NP_001366443.1:p.Pro677=
NM_001379515.1:c.1776A>T	NP_001366444.1:p.Pro592=
NM_001379516.1:c.1632A>T	NP_001366445.1:p.Pro544=
NM_006348.3:c.2439A>T	NP_006339.3:p.Pro813=
NM_006348.4:c.2346A>T	NP_006339.4:p.Pro782=
NM_181733.2:c.2376A>T	NP_859422.2:p.Pro792=
NM_181733.3:c.2283A>T	NP_859422.3:p.Pro761=
NM_181733.4:c.2283A>T	NP_859422.3:p.Pro761=
ENST00000297135.7:c.2439A>T	ENSP00000297135.3:p.Pro813=
ENST00000347053.7:c.2376A>T	ENSP00000334703.2:p.Pro792=
ENST00000347053.8:c.2283A>T	ENSP00000334703.3:p.Pro761=
ENST00000393603.6:c.2439A>T	ENSP00000377228.2:p.Pro813=
ENST00000393603.7:c.2346A>T	ENSP00000377228.3:p.Pro782=
ENST00000464542.5:n.797A>T