Canonical Allele Identifier: CA2374463333
Community Standard Title: NM_001853.4(COL9A3):c.369+1G=
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62821531G= , CM000682.2:g.62821531G= GRCh38
NC_000020.10:g.61452883G= , CM000682.1:g.61452883G= GRCh37
NC_000020.9:g.60923328G= NCBI36
NG_016353.1:g.9470G=

Transcript Alleles

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