Canonical Allele Identifier: CA409596021

Gene: COL9A3

Linked Data

• gnomAD v4: 20-62832182-G-A
• MyVariant Identifiers: chr20:g.61463534G>A (hg19) ; chr20:g.62832182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832182G>A , CM000682.2:g.62832182G>A	GRCh38
NC_000020.10:g.61463534G>A , CM000682.1:g.61463534G>A	GRCh37
NC_000020.9:g.60933979G>A	NCBI36
NG_016353.1:g.20121G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1316G>A MANE Select	ENSP00000496793.1:p.Gly439Glu
ENST00000343916.7:c.1316G>A	ENSP00000341640.3:p.Gly439Glu
ENST00000466192.5:n.1043G>A
ENST00000469852.5:n.612G>A
ENST00000481800.1:n.289G>A
ENST00000490398.5:n.113G>A
NM_001853.3:c.1316G>A	NP_001844.3:p.Gly439Glu
XM_011528543.1:c.1316G>A	XP_011526845.1:p.Gly439Glu
XM_011528544.1:c.1109G>A	XP_011526846.1:p.Gly370Glu
XM_011528545.1:c.1316G>A	XP_011526847.1:p.Gly439Glu
XM_011528546.1:c.1316G>A	XP_011526848.1:p.Gly439Glu
XM_011528547.1:c.1316G>A	XP_011526849.1:p.Gly439Glu
XR_936499.1:n.1317G>A
NM_001853.4:c.1316G>A MANE Select	NP_001844.3:p.Gly439Glu
XM_017027666.1:c.1316G>A	XP_016883155.1:p.Gly439Glu