Canonical Allele Identifier: CA9949201

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62821529C>G , CM000682.2:g.62821529C>G	GRCh38
NC_000020.10:g.61452881C>G , CM000682.1:g.61452881C>G	GRCh37
NC_000020.9:g.60923326C>G	NCBI36
NG_016353.1:g.9468C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.368C>G MANE Select	NP_001844.3:p.Pro123Arg
ENST00000649368.1:c.368C>G MANE Select	ENSP00000496793.1:p.Pro123Arg
NM_001853.3:c.368C>G	NP_001844.3:p.Pro123Arg
ENST00000343916.7:c.368C>G	ENSP00000341640.3:p.Pro123Arg
ENST00000452372.1:c.257C>G	ENSP00000394280.1:p.Pro86Arg
ENST00000452372.2:c.257C>G	ENSP00000394280.1:p.Pro86Arg
ENST00000477612.5:n.364C>G
ENST00000489045.5:n.414C>G
XM_011528543.1:c.368C>G	XP_011526845.1:p.Pro123Arg
XM_011528544.1:c.161C>G	XP_011526846.1:p.Pro54Arg
XM_011528545.1:c.368C>G	XP_011526847.1:p.Pro123Arg
XM_011528546.1:c.368C>G	XP_011526848.1:p.Pro123Arg
XM_011528547.1:c.368C>G	XP_011526849.1:p.Pro123Arg
XM_017027666.1:c.368C>G	XP_016883155.1:p.Pro123Arg
XR_936499.1:n.369C>G