Canonical Allele Identifier: CA409586886

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817122C>A , CM000682.2:g.62817122C>A	GRCh38
NC_000020.10:g.61448474C>A , CM000682.1:g.61448474C>A	GRCh37
NC_000020.9:g.60918919C>A	NCBI36
NG_016353.1:g.5061C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.58C>A MANE Select	NP_001844.3:p.Leu20Met
ENST00000649368.1:c.58C>A MANE Select	ENSP00000496793.1:p.Leu20Met
NM_001853.3:c.58C>A	NP_001844.3:p.Leu20Met
ENST00000343916.7:c.58C>A	ENSP00000341640.3:p.Leu20Met
ENST00000477612.5:n.75-445C>A
XM_011528543.1:c.58C>A	XP_011526845.1:p.Leu20Met
XM_011528545.1:c.58C>A	XP_011526847.1:p.Leu20Met
XM_011528546.1:c.58C>A	XP_011526848.1:p.Leu20Met
XM_011528547.1:c.58C>A	XP_011526849.1:p.Leu20Met
XM_017027666.1:c.58C>A	XP_016883155.1:p.Leu20Met
XR_936499.1:n.59C>A