Canonical Allele Identifier: CA9949161

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62821202C>T , CM000682.2:g.62821202C>T	GRCh38
NC_000020.10:g.61452554C>T , CM000682.1:g.61452554C>T	GRCh37
NC_000020.9:g.60922999C>T	NCBI36
NG_016353.1:g.9141C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.331C>T MANE Select	NP_001844.3:p.Pro111Ser
ENST00000649368.1:c.331C>T MANE Select	ENSP00000496793.1:p.Pro111Ser
NM_001853.3:c.331C>T	NP_001844.3:p.Pro111Ser
ENST00000343916.7:c.331C>T	ENSP00000341640.3:p.Pro111Ser
ENST00000452372.1:c.220C>T	ENSP00000394280.1:p.Pro74Ser
ENST00000452372.2:c.220C>T	ENSP00000394280.1:p.Pro74Ser
ENST00000477612.5:n.327C>T
ENST00000489045.5:n.377C>T
XM_011528543.1:c.331C>T	XP_011526845.1:p.Pro111Ser
XM_011528544.1:c.124C>T	XP_011526846.1:p.Pro42Ser
XM_011528545.1:c.331C>T	XP_011526847.1:p.Pro111Ser
XM_011528546.1:c.331C>T	XP_011526848.1:p.Pro111Ser
XM_011528547.1:c.331C>T	XP_011526849.1:p.Pro111Ser
XM_017027666.1:c.331C>T	XP_016883155.1:p.Pro111Ser
XR_936499.1:n.332C>T