Canonical Allele Identifier: CA9949080

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62819283C>T , CM000682.2:g.62819283C>T	GRCh38
NC_000020.10:g.61450635C>T , CM000682.1:g.61450635C>T	GRCh37
NC_000020.9:g.60921080C>T	NCBI36
NG_016353.1:g.7222C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.245C>T MANE Select	NP_001844.3:p.Pro82Leu
ENST00000649368.1:c.245C>T MANE Select	ENSP00000496793.1:p.Pro82Leu
NM_001853.3:c.245C>T	NP_001844.3:p.Pro82Leu
ENST00000343916.7:c.245C>T	ENSP00000341640.3:p.Pro82Leu
ENST00000452372.1:c.134C>T	ENSP00000394280.1:p.Pro45Leu
ENST00000452372.2:c.134C>T	ENSP00000394280.1:p.Pro45Leu
ENST00000477612.5:n.241C>T
ENST00000489045.5:n.291C>T
XM_011528543.1:c.245C>T	XP_011526845.1:p.Pro82Leu
XM_011528544.1:c.-27C>T	XP_011526846.1:n.-27C>T
XM_011528545.1:c.245C>T	XP_011526847.1:p.Pro82Leu
XM_011528546.1:c.245C>T	XP_011526848.1:p.Pro82Leu
XM_011528547.1:c.245C>T	XP_011526849.1:p.Pro82Leu
XM_017027666.1:c.245C>T	XP_016883155.1:p.Pro82Leu
XR_936499.1:n.246C>T