Canonical Allele Identifier: CA368838100

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107203591T>A , CM000669.2:g.107203591T>A	GRCh38
NC_000007.13:g.106844036T>A , CM000669.1:g.106844036T>A	GRCh37
NC_000007.12:g.106631272T>A	NCBI36
NG_028095.1:g.365924A>T
NG_028095.2:g.365924A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2415A>T MANE Select	NP_006339.4:p.Arg805Ser
ENST00000297135.9:c.2415A>T MANE Select	ENSP00000297135.4:p.Arg805Ser
NM_001379511.1:c.2253A>T	NP_001366440.1:p.Arg751Ser
NM_001379512.1:c.2241A>T	NP_001366441.1:p.Arg747Ser
NM_001379513.1:c.2208A>T	NP_001366442.1:p.Arg736Ser
NM_001379514.1:c.2100A>T	NP_001366443.1:p.Arg700Ser
NM_001379515.1:c.1845A>T	NP_001366444.1:p.Arg615Ser
NM_001379516.1:c.1701A>T	NP_001366445.1:p.Arg567Ser
NM_006348.3:c.2508A>T	NP_006339.3:p.Arg836Ser
NM_006348.4:c.2415A>T	NP_006339.4:p.Arg805Ser
NM_181733.2:c.2445A>T	NP_859422.2:p.Arg815Ser
NM_181733.3:c.2352A>T	NP_859422.3:p.Arg784Ser
NM_181733.4:c.2352A>T	NP_859422.3:p.Arg784Ser
ENST00000297135.7:c.2508A>T	ENSP00000297135.3:p.Arg836Ser
ENST00000347053.7:c.2445A>T	ENSP00000334703.2:p.Arg815Ser
ENST00000347053.8:c.2352A>T	ENSP00000334703.3:p.Arg784Ser