Canonical Allele Identifier: CA15497547

Gene: COG5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107527890T>C , CM000669.2:g.107527890T>C	GRCh38
NC_000007.13:g.107168335T>C , CM000669.1:g.107168335T>C	GRCh37
NC_000007.12:g.106955571T>C	NCBI36
NG_028095.1:g.41625A>G
NG_028095.2:g.41625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297135.9:c.418-533A>G MANE Select	ENSP00000297135.4:n.418-533A>G
ENST00000347053.8:c.418-533A>G	ENSP00000334703.3:n.418-533A>G
ENST00000393603.7:c.418-533A>G	ENSP00000377228.3:n.418-533A>G
ENST00000297135.7:c.511-533A>G	ENSP00000297135.3:n.511-533A>G
ENST00000347053.7:c.511-533A>G	ENSP00000334703.2:n.511-533A>G
ENST00000393603.6:c.511-533A>G	ENSP00000377228.2:n.511-533A>G
ENST00000475638.6:n.175-533A>G
ENST00000605888.1:c.418-533A>G	ENSP00000476238.1:n.418-533A>G
NM_001161520.1:c.511-533A>G	NP_001154992.1:n.511-533A>G
NM_006348.3:c.511-533A>G	NP_006339.3:n.511-533A>G
NM_181733.2:c.511-533A>G	NP_859422.2:n.511-533A>G
XM_011515738.1:c.511-533A>G	XP_011514040.1:n.511-533A>G
XM_024446634.1:c.511-533A>G	XP_024302402.1:n.511-533A>G
NM_001161520.2:c.418-533A>G	NP_001154992.2:n.418-533A>G
NM_006348.4:c.418-533A>G	NP_006339.4:n.418-533A>G
NM_181733.3:c.418-533A>G	NP_859422.3:n.418-533A>G
NM_001379511.1:c.418-533A>G	NP_001366440.1:n.418-533A>G
NM_001379512.1:c.418-533A>G	NP_001366441.1:n.418-533A>G
NM_001379513.1:c.418-533A>G	NP_001366442.1:n.418-533A>G
NM_001379514.1:c.418-533A>G	NP_001366443.1:n.418-533A>G
NM_001379515.1:c.418-533A>G	NP_001366444.1:n.418-533A>G
NM_001379516.1:c.234+30086A>G	NP_001366445.1:n.234+30086A>G
NM_006348.5:c.418-533A>G MANE Select	NP_006339.4:n.418-533A>G
NM_181733.4:c.418-533A>G	NP_859422.3:n.418-533A>G