Canonical Allele Identifier: CA4430661

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107211231C>T , CM000669.2:g.107211231C>T	GRCh38
NC_000007.13:g.106851676C>T , CM000669.1:g.106851676C>T	GRCh37
NC_000007.12:g.106638912C>T	NCBI36
NG_028095.1:g.358284G>A
NG_028095.2:g.358284G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2169-6G>A MANE Select	NP_006339.4:n.2169-6G>A
ENST00000297135.9:c.2169-6G>A MANE Select	ENSP00000297135.4:n.2169-6G>A
NM_001161520.1:c.2262-6G>A	NP_001154992.1:n.2262-6G>A
NM_001161520.2:c.2169-6G>A	NP_001154992.2:n.2169-6G>A
NM_001379511.1:c.2007-6G>A	NP_001366440.1:n.2007-6G>A
NM_001379512.1:c.1995-6G>A	NP_001366441.1:n.1995-6G>A
NM_001379513.1:c.2169-7601G>A	NP_001366442.1:n.2169-7601G>A
NM_001379514.1:c.1854-6G>A	NP_001366443.1:n.1854-6G>A
NM_001379515.1:c.1599-6G>A	NP_001366444.1:n.1599-6G>A
NM_001379516.1:c.1455-6G>A	NP_001366445.1:n.1455-6G>A
NM_006348.3:c.2262-6G>A	NP_006339.3:n.2262-6G>A
NM_006348.4:c.2169-6G>A	NP_006339.4:n.2169-6G>A
NM_181733.2:c.2199-6G>A	NP_859422.2:n.2199-6G>A
NM_181733.3:c.2106-6G>A	NP_859422.3:n.2106-6G>A
NM_181733.4:c.2106-6G>A	NP_859422.3:n.2106-6G>A
ENST00000297135.7:c.2262-6G>A	ENSP00000297135.3:n.2262-6G>A
ENST00000347053.7:c.2199-6G>A	ENSP00000334703.2:n.2199-6G>A
ENST00000347053.8:c.2106-6G>A	ENSP00000334703.3:n.2106-6G>A
ENST00000393603.6:c.2262-6G>A	ENSP00000377228.2:n.2262-6G>A
ENST00000393603.7:c.2169-6G>A	ENSP00000377228.3:n.2169-6G>A
ENST00000464542.5:n.620-6G>A