Canonical Allele Identifier: CA409596027

Gene: COL9A3

Linked Data

• gnomAD v4: 20-62832184-G-C
• MyVariant Identifiers: chr20:g.61463536G>C (hg19) ; chr20:g.62832184G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832184G>C , CM000682.2:g.62832184G>C	GRCh38
NC_000020.10:g.61463536G>C , CM000682.1:g.61463536G>C	GRCh37
NC_000020.9:g.60933981G>C	NCBI36
NG_016353.1:g.20123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1318G>C MANE Select	ENSP00000496793.1:p.Asp440His
ENST00000343916.7:c.1318G>C	ENSP00000341640.3:p.Asp440His
ENST00000466192.5:n.1045G>C
ENST00000469852.5:n.614G>C
ENST00000481800.1:n.291G>C
ENST00000490398.5:n.115G>C
NM_001853.3:c.1318G>C	NP_001844.3:p.Asp440His
XM_011528543.1:c.1318G>C	XP_011526845.1:p.Asp440His
XM_011528544.1:c.1111G>C	XP_011526846.1:p.Asp371His
XM_011528545.1:c.1318G>C	XP_011526847.1:p.Asp440His
XM_011528546.1:c.1318G>C	XP_011526848.1:p.Asp440His
XM_011528547.1:c.1318G>C	XP_011526849.1:p.Asp440His
XR_936499.1:n.1319G>C
NM_001853.4:c.1318G>C MANE Select	NP_001844.3:p.Asp440His
XM_017027666.1:c.1318G>C	XP_016883155.1:p.Asp440His