Canonical Allele Identifier: CA15975211

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62822403G>A , CM000682.2:g.62822403G>A	GRCh38
NC_000020.10:g.61453755G>A , CM000682.1:g.61453755G>A	GRCh37
NC_000020.9:g.60924200G>A	NCBI36
NG_016353.1:g.10342G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.478-188G>A MANE Select	NP_001844.3:n.478-188G>A
ENST00000649368.1:c.478-188G>A MANE Select	ENSP00000496793.1:n.478-188G>A
NM_001853.3:c.478-188G>A	NP_001844.3:n.478-188G>A
ENST00000343916.7:c.478-188G>A	ENSP00000341640.3:n.478-188G>A
ENST00000452372.1:c.367-188G>A	ENSP00000394280.1:n.367-188G>A
ENST00000452372.2:c.367-188G>A	ENSP00000394280.1:n.367-188G>A
ENST00000477612.5:n.474-188G>A
ENST00000489045.5:n.524-188G>A
XM_011528543.1:c.478-188G>A	XP_011526845.1:n.478-188G>A
XM_011528544.1:c.271-188G>A	XP_011526846.1:n.271-188G>A
XM_011528545.1:c.478-188G>A	XP_011526847.1:n.478-188G>A
XM_011528546.1:c.478-188G>A	XP_011526848.1:n.478-188G>A
XM_011528547.1:c.478-188G>A	XP_011526849.1:n.478-188G>A
XM_017027666.1:c.478-188G>A	XP_016883155.1:n.478-188G>A
XR_936499.1:n.479-188G>A