Canonical Allele Identifier: CA203049

Gene: COL9A3

Linked Data

• ClinVar Variation Id: 197734
• ClinVar RCV Id: RCV000178854 ; RCV001521625 ; RCV002277413
• dbSNP Id: rs142639450
• ExAC: 20:61451333 G / A
• gnomAD v2: 20-61451333-G-A
• gnomAD v3: 20-62819981-G-A
• gnomAD v4: 20-62819981-G-A
• MyVariant Identifiers: chr20:g.61451333G>A (hg19) ; chr20:g.62819981G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62819981G>A , CM000682.2:g.62819981G>A	GRCh38
NC_000020.10:g.61451333G>A , CM000682.1:g.61451333G>A	GRCh37
NC_000020.9:g.60921778G>A	NCBI36
NG_016353.1:g.7920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452372.2:c.197G>A	ENSP00000394280.1:p.Arg66Gln
ENST00000649368.1:c.308G>A MANE Select	ENSP00000496793.1:p.Arg103Gln
ENST00000343916.7:c.308G>A	ENSP00000341640.3:p.Arg103Gln
ENST00000452372.1:c.197G>A	ENSP00000394280.1:p.Arg66Gln
ENST00000477612.5:n.304G>A
ENST00000489045.5:n.354G>A
NM_001853.3:c.308G>A	NP_001844.3:p.Arg103Gln
XM_011528543.1:c.308G>A	XP_011526845.1:p.Arg103Gln
XM_011528544.1:c.37G>A	XP_011526846.1:p.Gly13Ser
XM_011528545.1:c.308G>A	XP_011526847.1:p.Arg103Gln
XM_011528546.1:c.308G>A	XP_011526848.1:p.Arg103Gln
XM_011528547.1:c.308G>A	XP_011526849.1:p.Arg103Gln
XR_936499.1:n.309G>A
NM_001853.4:c.308G>A MANE Select	NP_001844.3:p.Arg103Gln
XM_017027666.1:c.308G>A	XP_016883155.1:p.Arg103Gln