Canonical Allele Identifier: CA2374463334
Community Standard Title: NM_001853.4(COL9A3):c.369+2T=
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62821532T= , CM000682.2:g.62821532T= GRCh38
NC_000020.10:g.61452884T= , CM000682.1:g.61452884T= GRCh37
NC_000020.9:g.60923329T= NCBI36
NG_016353.1:g.9471T=

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.369+2T= MANE Select NP_001844.3:n.369+2T=
ENST00000649368.1:c.369+2T= MANE Select ENSP00000496793.1:n.369+2T=
NM_001853.3:c.369+2T= NP_001844.3:n.369+2T=
ENST00000343916.7:c.369+2T= ENSP00000341640.3:n.369+2T=
ENST00000452372.1:c.258+2T= ENSP00000394280.1:n.258+2T=
ENST00000452372.2:c.258+2T= ENSP00000394280.1:n.258+2T=
ENST00000477612.5:n.365+2T=
ENST00000489045.5:n.415+2T=
XM_011528543.1:c.369+2T= XP_011526845.1:n.369+2T=
XM_011528544.1:c.162+2T= XP_011526846.1:n.162+2T=
XM_011528545.1:c.369+2T= XP_011526847.1:n.369+2T=
XM_011528546.1:c.369+2T= XP_011526848.1:n.369+2T=
XM_011528547.1:c.369+2T= XP_011526849.1:n.369+2T=
XM_017027666.1:c.369+2T= XP_016883155.1:n.369+2T=
XR_936499.1:n.370+2T=