Canonical Allele Identifier: CA2374469717

Gene: COL9A3

Linked Data

• dbSNP Id: rs2063600590
• gnomAD v4: 20-62831972-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62831972C>G , CM000682.2:g.62831972C>G	GRCh38
NC_000020.10:g.61463324C>G , CM000682.1:g.61463324C>G	GRCh37
NC_000020.9:g.60933769C>G	NCBI36
NG_016353.1:g.19911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1288-182C>G MANE Select	ENSP00000496793.1:n.1288-182C>G
ENST00000343916.7:c.1288-182C>G	ENSP00000341640.3:n.1288-182C>G
ENST00000466192.5:n.833C>G
ENST00000469852.5:n.402C>G
ENST00000481800.1:n.245C>G
ENST00000490398.5:n.85-182C>G
NM_001853.3:c.1288-182C>G	NP_001844.3:n.1288-182C>G
XM_011528543.1:c.1288-182C>G	XP_011526845.1:n.1288-182C>G
XM_011528544.1:c.1081-182C>G	XP_011526846.1:n.1081-182C>G
XM_011528545.1:c.1288-182C>G	XP_011526847.1:n.1288-182C>G
XM_011528546.1:c.1288-182C>G	XP_011526848.1:n.1288-182C>G
XM_011528547.1:c.1288-182C>G	XP_011526849.1:n.1288-182C>G
XR_936499.1:n.1289-182C>G
NM_001853.4:c.1288-182C>G MANE Select	NP_001844.3:n.1288-182C>G
XM_017027666.1:c.1288-182C>G	XP_016883155.1:n.1288-182C>G