Canonical Allele Identifier: CA164689491
Gene: COG5 HGNC NCBI

Linked Data

dbSNP Id: rs977967785

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107298023C>A , CM000669.2:g.107298023C>A GRCh38
NC_000007.13:g.106938468C>A , CM000669.1:g.106938468C>A GRCh37
NC_000007.12:g.106725704C>A NCBI36
NG_028095.1:g.271492G>T
NG_028095.2:g.271492G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297135.9:c.1313+119G>T MANE Select ENSP00000297135.4:n.1313+119G>T
ENST00000347053.8:c.1313+119G>T ENSP00000334703.3:n.1313+119G>T
ENST00000393603.7:c.1313+119G>T ENSP00000377228.3:n.1313+119G>T
ENST00000297135.7:c.1406+119G>T ENSP00000297135.3:n.1406+119G>T
ENST00000347053.7:c.1406+119G>T ENSP00000334703.2:n.1406+119G>T
ENST00000393603.6:c.1406+119G>T ENSP00000377228.2:n.1406+119G>T
NM_001161520.1:c.1406+119G>T NP_001154992.1:n.1406+119G>T
NM_006348.3:c.1406+119G>T NP_006339.3:n.1406+119G>T
NM_181733.2:c.1406+119G>T NP_859422.2:n.1406+119G>T
XM_011515738.1:c.1406+119G>T XP_011514040.1:n.1406+119G>T
XM_024446634.1:c.1406+119G>T XP_024302402.1:n.1406+119G>T
NM_001161520.2:c.1313+119G>T NP_001154992.2:n.1313+119G>T
NM_006348.4:c.1313+119G>T NP_006339.4:n.1313+119G>T
NM_181733.3:c.1313+119G>T NP_859422.3:n.1313+119G>T
NM_001379511.1:c.1313+119G>T NP_001366440.1:n.1313+119G>T
NM_001379512.1:c.1313+119G>T NP_001366441.1:n.1313+119G>T
NM_001379513.1:c.1313+119G>T NP_001366442.1:n.1313+119G>T
NM_001379514.1:c.1313+119G>T NP_001366443.1:n.1313+119G>T
NM_001379515.1:c.743+119G>T NP_001366444.1:n.743+119G>T
NM_001379516.1:c.599+119G>T NP_001366445.1:n.599+119G>T
NM_006348.5:c.1313+119G>T MANE Select NP_006339.4:n.1313+119G>T
NM_181733.4:c.1313+119G>T NP_859422.3:n.1313+119G>T