Canonical Allele Identifier: CA4430563

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107203521G>A , CM000669.2:g.107203521G>A	GRCh38
NC_000007.13:g.106843966G>A , CM000669.1:g.106843966G>A	GRCh37
NC_000007.12:g.106631202G>A	NCBI36
NG_028095.1:g.365994C>T
NG_028095.2:g.365994C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2485C>T MANE Select	NP_006339.4:p.Gln829Ter
ENST00000297135.9:c.2485C>T MANE Select	ENSP00000297135.4:p.Gln829Ter
NM_001379511.1:c.2323C>T	NP_001366440.1:p.Gln775Ter
NM_001379512.1:c.2311C>T	NP_001366441.1:p.Gln771Ter
NM_001379513.1:c.2278C>T	NP_001366442.1:p.Gln760Ter
NM_001379514.1:c.2170C>T	NP_001366443.1:p.Gln724Ter
NM_001379515.1:c.1915C>T	NP_001366444.1:p.Gln639Ter
NM_001379516.1:c.1771C>T	NP_001366445.1:p.Gln591Ter
NM_006348.3:c.2578C>T	NP_006339.3:p.Gln860Ter
NM_006348.4:c.2485C>T	NP_006339.4:p.Gln829Ter
NM_181733.2:c.2515C>T	NP_859422.2:p.Gln839Ter
NM_181733.3:c.2422C>T	NP_859422.3:p.Gln808Ter
NM_181733.4:c.2422C>T	NP_859422.3:p.Gln808Ter
ENST00000297135.7:c.2578C>T	ENSP00000297135.3:p.Gln860Ter
ENST00000347053.7:c.2515C>T	ENSP00000334703.2:p.Gln839Ter
ENST00000347053.8:c.2422C>T	ENSP00000334703.3:p.Gln808Ter