Canonical Allele Identifier: CA4430929

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107283702T>C , CM000669.2:g.107283702T>C	GRCh38
NC_000007.13:g.106924147T>C , CM000669.1:g.106924147T>C	GRCh37
NC_000007.12:g.106711383T>C	NCBI36
NG_028095.1:g.285813A>G
NG_028095.2:g.285813A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.1344A>G MANE Select	NP_006339.4:p.Gln448=
ENST00000297135.9:c.1344A>G MANE Select	ENSP00000297135.4:p.Gln448=
NM_001161520.1:c.1437A>G	NP_001154992.1:p.Gln479=
NM_001161520.2:c.1344A>G	NP_001154992.2:p.Gln448=
NM_001379511.1:c.1314-2303A>G	NP_001366440.1:n.1314-2303A>G
NM_001379512.1:c.1344A>G	NP_001366441.1:p.Gln448=
NM_001379513.1:c.1344A>G	NP_001366442.1:p.Gln448=
NM_001379514.1:c.1344A>G	NP_001366443.1:p.Gln448=
NM_001379515.1:c.774A>G	NP_001366444.1:p.Gln258=
NM_001379516.1:c.630A>G	NP_001366445.1:p.Gln210=
NM_006348.3:c.1437A>G	NP_006339.3:p.Gln479=
NM_006348.4:c.1344A>G	NP_006339.4:p.Gln448=
NM_181733.2:c.1437A>G	NP_859422.2:p.Gln479=
NM_181733.3:c.1344A>G	NP_859422.3:p.Gln448=
NM_181733.4:c.1344A>G	NP_859422.3:p.Gln448=
ENST00000297135.7:c.1437A>G	ENSP00000297135.3:p.Gln479=
ENST00000347053.7:c.1437A>G	ENSP00000334703.2:p.Gln479=
ENST00000347053.8:c.1344A>G	ENSP00000334703.3:p.Gln448=
ENST00000393603.6:c.1437A>G	ENSP00000377228.2:p.Gln479=
ENST00000393603.7:c.1344A>G	ENSP00000377228.3:p.Gln448=
XM_011515738.1:c.1437A>G	XP_011514040.1:p.Gln479=
XM_024446634.1:c.1437A>G	XP_024302402.1:p.Gln479=