Canonical Allele Identifier: CA9949350

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62824471C>T , CM000682.2:g.62824471C>T	GRCh38
NC_000020.10:g.61455823C>T , CM000682.1:g.61455823C>T	GRCh37
NC_000020.9:g.60926268C>T	NCBI36
NG_016353.1:g.12410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452372.2:c.435C>T	ENSP00000394280.1:p.Pro145=
ENST00000463487.2:n.51C>T
ENST00000649368.1:c.546C>T MANE Select	ENSP00000496793.1:p.Pro182=
ENST00000343916.7:c.546C>T	ENSP00000341640.3:p.Pro182=
ENST00000452372.1:c.435C>T	ENSP00000394280.1:p.Pro145=
ENST00000463487.1:n.50C>T
ENST00000477612.5:n.542C>T
ENST00000489045.5:n.592C>T
NM_001853.3:c.546C>T	NP_001844.3:p.Pro182=
XM_011528543.1:c.546C>T	XP_011526845.1:p.Pro182=
XM_011528544.1:c.339C>T	XP_011526846.1:p.Pro113=
XM_011528545.1:c.546C>T	XP_011526847.1:p.Pro182=
XM_011528546.1:c.546C>T	XP_011526848.1:p.Pro182=
XM_011528547.1:c.546C>T	XP_011526849.1:p.Pro182=
XR_936499.1:n.547C>T
NM_001853.4:c.546C>T MANE Select	NP_001844.3:p.Pro182=
XM_017027666.1:c.546C>T	XP_016883155.1:p.Pro182=