Canonical Allele Identifier: CA409595995

Gene: COL9A3

Linked Data

• MyVariant Identifiers: chr20:g.61463527C>A (hg19) ; chr20:g.62832175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832175C>A , CM000682.2:g.62832175C>A	GRCh38
NC_000020.10:g.61463527C>A , CM000682.1:g.61463527C>A	GRCh37
NC_000020.9:g.60933972C>A	NCBI36
NG_016353.1:g.20114C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1309C>A MANE Select	ENSP00000496793.1:p.Pro437Thr
ENST00000343916.7:c.1309C>A	ENSP00000341640.3:p.Pro437Thr
ENST00000466192.5:n.1036C>A
ENST00000469852.5:n.605C>A
ENST00000481800.1:n.282C>A
ENST00000490398.5:n.106C>A
NM_001853.3:c.1309C>A	NP_001844.3:p.Pro437Thr
XM_011528543.1:c.1309C>A	XP_011526845.1:p.Pro437Thr
XM_011528544.1:c.1102C>A	XP_011526846.1:p.Pro368Thr
XM_011528545.1:c.1309C>A	XP_011526847.1:p.Pro437Thr
XM_011528546.1:c.1309C>A	XP_011526848.1:p.Pro437Thr
XM_011528547.1:c.1309C>A	XP_011526849.1:p.Pro437Thr
XR_936499.1:n.1310C>A
NM_001853.4:c.1309C>A MANE Select	NP_001844.3:p.Pro437Thr
XM_017027666.1:c.1309C>A	XP_016883155.1:p.Pro437Thr