Canonical Allele Identifier: CA4430576

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107203605A>G , CM000669.2:g.107203605A>G	GRCh38
NC_000007.13:g.106844050A>G , CM000669.1:g.106844050A>G	GRCh37
NC_000007.12:g.106631286A>G	NCBI36
NG_028095.1:g.365910T>C
NG_028095.2:g.365910T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2401T>C MANE Select	NP_006339.4:p.Ser801Pro
ENST00000297135.9:c.2401T>C MANE Select	ENSP00000297135.4:p.Ser801Pro
NM_001379511.1:c.2239T>C	NP_001366440.1:p.Ser747Pro
NM_001379512.1:c.2227T>C	NP_001366441.1:p.Ser743Pro
NM_001379513.1:c.2194T>C	NP_001366442.1:p.Ser732Pro
NM_001379514.1:c.2086T>C	NP_001366443.1:p.Ser696Pro
NM_001379515.1:c.1831T>C	NP_001366444.1:p.Ser611Pro
NM_001379516.1:c.1687T>C	NP_001366445.1:p.Ser563Pro
NM_006348.3:c.2494T>C	NP_006339.3:p.Ser832Pro
NM_006348.4:c.2401T>C	NP_006339.4:p.Ser801Pro
NM_181733.2:c.2431T>C	NP_859422.2:p.Ser811Pro
NM_181733.3:c.2338T>C	NP_859422.3:p.Ser780Pro
NM_181733.4:c.2338T>C	NP_859422.3:p.Ser780Pro
ENST00000297135.7:c.2494T>C	ENSP00000297135.3:p.Ser832Pro
ENST00000347053.7:c.2431T>C	ENSP00000334703.2:p.Ser811Pro
ENST00000347053.8:c.2338T>C	ENSP00000334703.3:p.Ser780Pro