Canonical Allele Identifier: CA457095172

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107211120A>C , CM000669.2:g.107211120A>C	GRCh38
NC_000007.13:g.106851565A>C , CM000669.1:g.106851565A>C	GRCh37
NC_000007.12:g.106638801A>C	NCBI36
NG_028095.1:g.358395T>G
NG_028095.2:g.358395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297135.9:c.2274T>G MANE Select	ENSP00000297135.4:p.Ala758=
ENST00000347053.8:c.2211T>G	ENSP00000334703.3:p.Ala737=
ENST00000393603.7:c.2274T>G	ENSP00000377228.3:p.Ala758=
ENST00000297135.7:c.2367T>G	ENSP00000297135.3:p.Ala789=
ENST00000347053.7:c.2304T>G	ENSP00000334703.2:p.Ala768=
ENST00000393603.6:c.2367T>G	ENSP00000377228.2:p.Ala789=
ENST00000464542.5:n.725T>G
NM_001161520.1:c.2367T>G	NP_001154992.1:p.Ala789=
NM_006348.3:c.2367T>G	NP_006339.3:p.Ala789=
NM_181733.2:c.2304T>G	NP_859422.2:p.Ala768=
NM_001161520.2:c.2274T>G	NP_001154992.2:p.Ala758=
NM_006348.4:c.2274T>G	NP_006339.4:p.Ala758=
NM_181733.3:c.2211T>G	NP_859422.3:p.Ala737=
NM_001379511.1:c.2112T>G	NP_001366440.1:p.Ala704=
NM_001379512.1:c.2100T>G	NP_001366441.1:p.Ala700=
NM_001379513.1:c.2169-7490T>G	NP_001366442.1:n.2169-7490T>G
NM_001379514.1:c.1959T>G	NP_001366443.1:p.Ala653=
NM_001379515.1:c.1704T>G	NP_001366444.1:p.Ala568=
NM_001379516.1:c.1560T>G	NP_001366445.1:p.Ala520=
NM_006348.5:c.2274T>G MANE Select	NP_006339.4:p.Ala758=
NM_181733.4:c.2211T>G	NP_859422.3:p.Ala737=