Canonical Allele Identifier: CA368837976

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107203555C>A , CM000669.2:g.107203555C>A	GRCh38
NC_000007.13:g.106844000C>A , CM000669.1:g.106844000C>A	GRCh37
NC_000007.12:g.106631236C>A	NCBI36
NG_028095.1:g.365960G>T
NG_028095.2:g.365960G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2451G>T MANE Select	NP_006339.4:p.Met817Ile
ENST00000297135.9:c.2451G>T MANE Select	ENSP00000297135.4:p.Met817Ile
NM_001379511.1:c.2289G>T	NP_001366440.1:p.Met763Ile
NM_001379512.1:c.2277G>T	NP_001366441.1:p.Met759Ile
NM_001379513.1:c.2244G>T	NP_001366442.1:p.Met748Ile
NM_001379514.1:c.2136G>T	NP_001366443.1:p.Met712Ile
NM_001379515.1:c.1881G>T	NP_001366444.1:p.Met627Ile
NM_001379516.1:c.1737G>T	NP_001366445.1:p.Met579Ile
NM_006348.3:c.2544G>T	NP_006339.3:p.Met848Ile
NM_006348.4:c.2451G>T	NP_006339.4:p.Met817Ile
NM_181733.2:c.2481G>T	NP_859422.2:p.Met827Ile
NM_181733.3:c.2388G>T	NP_859422.3:p.Met796Ile
NM_181733.4:c.2388G>T	NP_859422.3:p.Met796Ile
ENST00000297135.7:c.2544G>T	ENSP00000297135.3:p.Met848Ile
ENST00000347053.7:c.2481G>T	ENSP00000334703.2:p.Met827Ile
ENST00000347053.8:c.2388G>T	ENSP00000334703.3:p.Met796Ile