Canonical Allele Identifier: CA831152304
Gene: COG5 HGNC NCBI

Linked Data

dbSNP Id: rs1479908969

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107297937G>C , CM000669.2:g.107297937G>C GRCh38
NC_000007.13:g.106938382G>C , CM000669.1:g.106938382G>C GRCh37
NC_000007.12:g.106725618G>C NCBI36
NG_028095.1:g.271578C>G
NG_028095.2:g.271578C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297135.9:c.1313+205C>G MANE Select ENSP00000297135.4:n.1313+205C>G
ENST00000347053.8:c.1313+205C>G ENSP00000334703.3:n.1313+205C>G
ENST00000393603.7:c.1313+205C>G ENSP00000377228.3:n.1313+205C>G
ENST00000297135.7:c.1406+205C>G ENSP00000297135.3:n.1406+205C>G
ENST00000347053.7:c.1406+205C>G ENSP00000334703.2:n.1406+205C>G
ENST00000393603.6:c.1406+205C>G ENSP00000377228.2:n.1406+205C>G
NM_001161520.1:c.1406+205C>G NP_001154992.1:n.1406+205C>G
NM_006348.3:c.1406+205C>G NP_006339.3:n.1406+205C>G
NM_181733.2:c.1406+205C>G NP_859422.2:n.1406+205C>G
XM_011515738.1:c.1406+205C>G XP_011514040.1:n.1406+205C>G
XM_024446634.1:c.1406+205C>G XP_024302402.1:n.1406+205C>G
NM_001161520.2:c.1313+205C>G NP_001154992.2:n.1313+205C>G
NM_006348.4:c.1313+205C>G NP_006339.4:n.1313+205C>G
NM_181733.3:c.1313+205C>G NP_859422.3:n.1313+205C>G
NM_001379511.1:c.1313+205C>G NP_001366440.1:n.1313+205C>G
NM_001379512.1:c.1313+205C>G NP_001366441.1:n.1313+205C>G
NM_001379513.1:c.1313+205C>G NP_001366442.1:n.1313+205C>G
NM_001379514.1:c.1313+205C>G NP_001366443.1:n.1313+205C>G
NM_001379515.1:c.743+205C>G NP_001366444.1:n.743+205C>G
NM_001379516.1:c.599+205C>G NP_001366445.1:n.599+205C>G
NM_006348.5:c.1313+205C>G MANE Select NP_006339.4:n.1313+205C>G
NM_181733.4:c.1313+205C>G NP_859422.3:n.1313+205C>G