Canonical Allele Identifier: CA409596003

Gene: COL9A3

Linked Data

• ClinVar Variation Id: 1419686
• ClinVar RCV Id: RCV001910545
• dbSNP Id: rs2063602180
• gnomAD v4: 20-62832178-A-G
• MyVariant Identifiers: chr20:g.61463530A>G (hg19) ; chr20:g.62832178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832178A>G , CM000682.2:g.62832178A>G	GRCh38
NC_000020.10:g.61463530A>G , CM000682.1:g.61463530A>G	GRCh37
NC_000020.9:g.60933975A>G	NCBI36
NG_016353.1:g.20117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1312A>G MANE Select	ENSP00000496793.1:p.Lys438Glu
ENST00000343916.7:c.1312A>G	ENSP00000341640.3:p.Lys438Glu
ENST00000466192.5:n.1039A>G
ENST00000469852.5:n.608A>G
ENST00000481800.1:n.285A>G
ENST00000490398.5:n.109A>G
NM_001853.3:c.1312A>G	NP_001844.3:p.Lys438Glu
XM_011528543.1:c.1312A>G	XP_011526845.1:p.Lys438Glu
XM_011528544.1:c.1105A>G	XP_011526846.1:p.Lys369Glu
XM_011528545.1:c.1312A>G	XP_011526847.1:p.Lys438Glu
XM_011528546.1:c.1312A>G	XP_011526848.1:p.Lys438Glu
XM_011528547.1:c.1312A>G	XP_011526849.1:p.Lys438Glu
XR_936499.1:n.1313A>G
NM_001853.4:c.1312A>G MANE Select	NP_001844.3:p.Lys438Glu
XM_017027666.1:c.1312A>G	XP_016883155.1:p.Lys438Glu