Canonical Allele Identifier: CA9949197

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62821521T>C , CM000682.2:g.62821521T>C	GRCh38
NC_000020.10:g.61452873T>C , CM000682.1:g.61452873T>C	GRCh37
NC_000020.9:g.60923318T>C	NCBI36
NG_016353.1:g.9460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452372.2:c.249T>C	ENSP00000394280.1:p.Pro83=
ENST00000649368.1:c.360T>C MANE Select	ENSP00000496793.1:p.Pro120=
ENST00000343916.7:c.360T>C	ENSP00000341640.3:p.Pro120=
ENST00000452372.1:c.249T>C	ENSP00000394280.1:p.Pro83=
ENST00000477612.5:n.356T>C
ENST00000489045.5:n.406T>C
NM_001853.3:c.360T>C	NP_001844.3:p.Pro120=
XM_011528543.1:c.360T>C	XP_011526845.1:p.Pro120=
XM_011528544.1:c.153T>C	XP_011526846.1:p.Pro51=
XM_011528545.1:c.360T>C	XP_011526847.1:p.Pro120=
XM_011528546.1:c.360T>C	XP_011526848.1:p.Pro120=
XM_011528547.1:c.360T>C	XP_011526849.1:p.Pro120=
XR_936499.1:n.361T>C
NM_001853.4:c.360T>C MANE Select	NP_001844.3:p.Pro120=
XM_017027666.1:c.360T>C	XP_016883155.1:p.Pro120=