Canonical Allele Identifier: CA4430715

Gene: COG5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107236473G>A , CM000669.2:g.107236473G>A	GRCh38
NC_000007.13:g.106876918G>A , CM000669.1:g.106876918G>A	GRCh37
NC_000007.12:g.106664154G>A	NCBI36
NG_028095.1:g.333042C>T
NG_028095.2:g.333042C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006348.5:c.2068C>T MANE Select	NP_006339.4:p.Arg690Ter
ENST00000297135.9:c.2068C>T MANE Select	ENSP00000297135.4:p.Arg690Ter
NM_001161520.1:c.2161C>T	NP_001154992.1:p.Arg721Ter
NM_001161520.2:c.2068C>T	NP_001154992.2:p.Arg690Ter
NM_001379511.1:c.1906C>T	NP_001366440.1:p.Arg636Ter
NM_001379512.1:c.1894C>T	NP_001366441.1:p.Arg632Ter
NM_001379513.1:c.2068C>T	NP_001366442.1:p.Arg690Ter
NM_001379514.1:c.1853+11923C>T	NP_001366443.1:n.1853+11923C>T
NM_001379515.1:c.1498C>T	NP_001366444.1:p.Arg500Ter
NM_001379516.1:c.1354C>T	NP_001366445.1:p.Arg452Ter
NM_006348.3:c.2161C>T	NP_006339.3:p.Arg721Ter
NM_006348.4:c.2068C>T	NP_006339.4:p.Arg690Ter
NM_181733.2:c.2098C>T	NP_859422.2:p.Arg700Ter
NM_181733.3:c.2005C>T	NP_859422.3:p.Arg669Ter
NM_181733.4:c.2005C>T	NP_859422.3:p.Arg669Ter
ENST00000297135.7:c.2161C>T	ENSP00000297135.3:p.Arg721Ter
ENST00000347053.7:c.2098C>T	ENSP00000334703.2:p.Arg700Ter
ENST00000347053.8:c.2005C>T	ENSP00000334703.3:p.Arg669Ter
ENST00000393603.6:c.2161C>T	ENSP00000377228.2:p.Arg721Ter
ENST00000393603.7:c.2068C>T	ENSP00000377228.3:p.Arg690Ter
ENST00000464542.5:n.519C>T