Canonical Allele Identifier: CA457182777

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107256762T>C , CM000669.2:g.107256762T>C	GRCh38
NC_000007.13:g.106897207T>C , CM000669.1:g.106897207T>C	GRCh37
NC_000007.12:g.106684443T>C	NCBI36
NG_028095.1:g.312753A>G
NG_028095.2:g.312753A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.1719A>G MANE Select	NP_006339.4:p.Ala573=
ENST00000297135.9:c.1719A>G MANE Select	ENSP00000297135.4:p.Ala573=
NM_001161520.1:c.1812A>G	NP_001154992.1:p.Ala604=
NM_001161520.2:c.1719A>G	NP_001154992.2:p.Ala573=
NM_001379511.1:c.1557A>G	NP_001366440.1:p.Ala519=
NM_001379512.1:c.1576-8263A>G	NP_001366441.1:n.1576-8263A>G
NM_001379513.1:c.1719A>G	NP_001366442.1:p.Ala573=
NM_001379514.1:c.1719A>G	NP_001366443.1:p.Ala573=
NM_001379515.1:c.1149A>G	NP_001366444.1:p.Ala383=
NM_001379516.1:c.1005A>G	NP_001366445.1:p.Ala335=
NM_006348.3:c.1812A>G	NP_006339.3:p.Ala604=
NM_006348.4:c.1719A>G	NP_006339.4:p.Ala573=
NM_181733.2:c.1779+1511A>G	NP_859422.2:n.1779+1511A>G
NM_181733.3:c.1686+1511A>G	NP_859422.3:n.1686+1511A>G
NM_181733.4:c.1686+1511A>G	NP_859422.3:n.1686+1511A>G
ENST00000297135.7:c.1812A>G	ENSP00000297135.3:p.Ala604=
ENST00000347053.7:c.1779+1511A>G	ENSP00000334703.2:n.1779+1511A>G
ENST00000347053.8:c.1686+1511A>G	ENSP00000334703.3:n.1686+1511A>G
ENST00000393603.6:c.1812A>G	ENSP00000377228.2:p.Ala604=
ENST00000393603.7:c.1719A>G	ENSP00000377228.3:p.Ala573=
ENST00000462342.1:n.381A>G
ENST00000468350.5:n.285A>G