Canonical Allele Identifier: CA246638

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62821204G>A , CM000682.2:g.62821204G>A	GRCh38
NC_000020.10:g.61452556G>A , CM000682.1:g.61452556G>A	GRCh37
NC_000020.9:g.60923001G>A	NCBI36
NG_016353.1:g.9143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.333G>A MANE Select	NP_001844.3:p.Pro111=
ENST00000649368.1:c.333G>A MANE Select	ENSP00000496793.1:p.Pro111=
NM_001853.3:c.333G>A	NP_001844.3:p.Pro111=
ENST00000343916.7:c.333G>A	ENSP00000341640.3:p.Pro111=
ENST00000452372.1:c.222G>A	ENSP00000394280.1:p.Pro74=
ENST00000452372.2:c.222G>A	ENSP00000394280.1:p.Pro74=
ENST00000477612.5:n.329G>A
ENST00000489045.5:n.379G>A
XM_011528543.1:c.333G>A	XP_011526845.1:p.Pro111=
XM_011528544.1:c.126G>A	XP_011526846.1:p.Pro42=
XM_011528545.1:c.333G>A	XP_011526847.1:p.Pro111=
XM_011528546.1:c.333G>A	XP_011526848.1:p.Pro111=
XM_011528547.1:c.333G>A	XP_011526849.1:p.Pro111=
XM_017027666.1:c.333G>A	XP_016883155.1:p.Pro111=
XR_936499.1:n.334G>A