Canonical Allele Identifier: CA1732644138
Community Standard Title: NM_006348.5(COG5):c.538+50634G=
Gene: COG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107476603C= , CM000669.2:g.107476603C= GRCh38
NC_000007.13:g.107117048C= , CM000669.1:g.107117048C= GRCh37
NC_000007.12:g.106904284C= NCBI36
NG_028095.1:g.92912G=
NG_028095.2:g.92912G=

Transcript Alleles

HGVS Amino-acid Change
NM_006348.5:c.538+50634G= MANE Select NP_006339.4:n.538+50634G=
ENST00000297135.9:c.538+50634G= MANE Select ENSP00000297135.4:n.538+50634G=
NM_001161520.1:c.631+50634G= NP_001154992.1:n.631+50634G=
NM_001161520.2:c.538+50634G= NP_001154992.2:n.538+50634G=
NM_001379511.1:c.538+50634G= NP_001366440.1:n.538+50634G=
NM_001379512.1:c.538+50634G= NP_001366441.1:n.538+50634G=
NM_001379513.1:c.538+50634G= NP_001366442.1:n.538+50634G=
NM_001379514.1:c.538+50634G= NP_001366443.1:n.538+50634G=
NM_001379515.1:c.538+50634G= NP_001366444.1:n.538+50634G=
NM_001379516.1:c.234+81373G= NP_001366445.1:n.234+81373G=
NM_006348.3:c.631+50634G= NP_006339.3:n.631+50634G=
NM_006348.4:c.538+50634G= NP_006339.4:n.538+50634G=
NM_181733.2:c.631+50634G= NP_859422.2:n.631+50634G=
NM_181733.3:c.538+50634G= NP_859422.3:n.538+50634G=
NM_181733.4:c.538+50634G= NP_859422.3:n.538+50634G=
ENST00000297135.7:c.631+50634G= ENSP00000297135.3:n.631+50634G=
ENST00000347053.7:c.631+50634G= ENSP00000334703.2:n.631+50634G=
ENST00000347053.8:c.538+50634G= ENSP00000334703.3:n.538+50634G=
ENST00000393603.6:c.631+50634G= ENSP00000377228.2:n.631+50634G=
ENST00000393603.7:c.538+50634G= ENSP00000377228.3:n.538+50634G=
ENST00000475638.6:n.295+50634G=
ENST00000484237.5:n.121+4219G=
XM_011515738.1:c.631+50634G= XP_011514040.1:n.631+50634G=
XM_024446634.1:c.631+50634G= XP_024302402.1:n.631+50634G=