Canonical Allele Identifier: CA8144661

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70514343C>T , CM000678.2:g.70514343C>T	GRCh38
NC_000016.9:g.70548246C>T , CM000678.1:g.70548246C>T	GRCh37
NC_000016.8:g.69105747C>T	NCBI36
NG_027529.1:g.14212G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015386.3:c.536G>A MANE Select	NP_056201.2:p.Gly179Asp
ENST00000323786.10:c.536G>A MANE Select	ENSP00000315775.5:p.Gly179Asp
NM_001195139.1:c.536G>A	NP_001182068.1:p.Gly179Asp
NM_001195139.2:c.524G>A	NP_001182068.2:p.Gly175Asp
NM_001365426.1:c.110G>A	NP_001352355.1:p.Gly37Asp
NM_015386.2:c.536G>A	NP_056201.2:p.Gly179Asp
NR_158212.1:n.547G>A
ENST00000323786.9:c.536G>A	ENSP00000315775.5:p.Gly179Asp
ENST00000393612.8:c.536G>A	ENSP00000377236.5:p.Gly179Asp
ENST00000482252.5:c.524G>A	ENSP00000432802.1:p.Gly175Asp
ENST00000524584.1:c.483G>A
ENST00000530160.1:c.*118G>A	ENSP00000434160.1:n.*118G>A
ENST00000530160.2:c.*118G>A	ENSP00000434160.2:n.*118G>A
ENST00000530314.5:n.449G>A
ENST00000534772.1:c.305G>A	ENSP00000461912.1:p.Gly102Asp
ENST00000534772.2:c.*612G>A	ENSP00000461912.2:n.*612G>A
ENST00000562200.5:n.533G>A
ENST00000564415.5:c.*316G>A	ENSP00000456653.1:n.*316G>A
ENST00000564415.6:c.*316G>A	ENSP00000456653.2:n.*316G>A
ENST00000564653.5:c.513+23G>A	ENSP00000454573.1:n.513+23G>A
ENST00000564653.6:c.501+23G>A	ENSP00000454573.2:n.501+23G>A
ENST00000674443.1:c.524G>A	ENSP00000501405.1:p.Gly175Asp
ENST00000703106.1:c.485G>A	ENSP00000515173.1:p.Gly162Asp
ENST00000703107.1:c.*465G>A	ENSP00000515174.1:n.*465G>A
ENST00000703108.1:c.524G>A	ENSP00000515175.1:p.Gly175Asp
ENST00000703109.1:c.443G>A	ENSP00000515176.1:p.Gly148Asp
ENST00000703110.1:c.*110-1911G>A	ENSP00000515177.1:n.*110-1911G>A
ENST00000703111.1:n.543G>A
ENST00000703112.1:n.543G>A
ENST00000703113.1:c.524G>A	ENSP00000515178.1:p.Gly175Asp
ENST00000703114.1:c.524G>A	ENSP00000515179.1:p.Gly175Asp
ENST00000703115.1:c.392G>A	ENSP00000515180.1:p.Gly131Asp
XM_011522981.1:c.110G>A	XP_011521283.1:p.Gly37Asp
XM_011522981.3:c.110G>A	XP_011521283.1:p.Gly37Asp
XM_024450224.1:c.-1149G>A	XP_024305992.1:n.-1149G>A
XR_001751889.1:n.534G>A
XR_933266.1:n.534G>A
XR_933266.2:n.534G>A
XR_933267.1:n.534G>A