Canonical Allele Identifier: CA317336708

Gene: COL9A3

Linked Data

• ClinVar Variation Id: 1995143
• ClinVar RCV Id: RCV002796375
• dbSNP Id: rs886301240
• MyVariant Identifiers: chr20:g.61463535A>C (hg19) ; chr20:g.62832183A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832183A>C , CM000682.2:g.62832183A>C	GRCh38
NC_000020.10:g.61463535A>C , CM000682.1:g.61463535A>C	GRCh37
NC_000020.9:g.60933980A>C	NCBI36
NG_016353.1:g.20122A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1317A>C MANE Select	ENSP00000496793.1:p.Gly439=
ENST00000343916.7:c.1317A>C	ENSP00000341640.3:p.Gly439=
ENST00000466192.5:n.1044A>C
ENST00000469852.5:n.613A>C
ENST00000481800.1:n.290A>C
ENST00000490398.5:n.114A>C
NM_001853.3:c.1317A>C	NP_001844.3:p.Gly439=
XM_011528543.1:c.1317A>C	XP_011526845.1:p.Gly439=
XM_011528544.1:c.1110A>C	XP_011526846.1:p.Gly370=
XM_011528545.1:c.1317A>C	XP_011526847.1:p.Gly439=
XM_011528546.1:c.1317A>C	XP_011526848.1:p.Gly439=
XM_011528547.1:c.1317A>C	XP_011526849.1:p.Gly439=
XR_936499.1:n.1318A>C
NM_001853.4:c.1317A>C MANE Select	NP_001844.3:p.Gly439=
XM_017027666.1:c.1317A>C	XP_016883155.1:p.Gly439=