Canonical Allele Identifier: CA12637002
Gene: COG5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107476603C>T , CM000669.2:g.107476603C>T GRCh38
NC_000007.13:g.107117048C>T , CM000669.1:g.107117048C>T GRCh37
NC_000007.12:g.106904284C>T NCBI36
NG_028095.1:g.92912G>A
NG_028095.2:g.92912G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297135.9:c.538+50634G>A MANE Select ENSP00000297135.4:n.538+50634G>A
ENST00000347053.8:c.538+50634G>A ENSP00000334703.3:n.538+50634G>A
ENST00000393603.7:c.538+50634G>A ENSP00000377228.3:n.538+50634G>A
ENST00000297135.7:c.631+50634G>A ENSP00000297135.3:n.631+50634G>A
ENST00000347053.7:c.631+50634G>A ENSP00000334703.2:n.631+50634G>A
ENST00000393603.6:c.631+50634G>A ENSP00000377228.2:n.631+50634G>A
ENST00000475638.6:n.295+50634G>A
ENST00000484237.5:n.121+4219G>A
NM_001161520.1:c.631+50634G>A NP_001154992.1:n.631+50634G>A
NM_006348.3:c.631+50634G>A NP_006339.3:n.631+50634G>A
NM_181733.2:c.631+50634G>A NP_859422.2:n.631+50634G>A
XM_011515738.1:c.631+50634G>A XP_011514040.1:n.631+50634G>A
XM_024446634.1:c.631+50634G>A XP_024302402.1:n.631+50634G>A
NM_001161520.2:c.538+50634G>A NP_001154992.2:n.538+50634G>A
NM_006348.4:c.538+50634G>A NP_006339.4:n.538+50634G>A
NM_181733.3:c.538+50634G>A NP_859422.3:n.538+50634G>A
NM_001379511.1:c.538+50634G>A NP_001366440.1:n.538+50634G>A
NM_001379512.1:c.538+50634G>A NP_001366441.1:n.538+50634G>A
NM_001379513.1:c.538+50634G>A NP_001366442.1:n.538+50634G>A
NM_001379514.1:c.538+50634G>A NP_001366443.1:n.538+50634G>A
NM_001379515.1:c.538+50634G>A NP_001366444.1:n.538+50634G>A
NM_001379516.1:c.234+81373G>A NP_001366445.1:n.234+81373G>A
NM_006348.5:c.538+50634G>A MANE Select NP_006339.4:n.538+50634G>A
NM_181733.4:c.538+50634G>A NP_859422.3:n.538+50634G>A
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