Canonical Allele Identifier: CA2374469859

Gene: COL9A3

Linked Data

• dbSNP Id: rs2063602604

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832253C>T , CM000682.2:g.62832253C>T	GRCh38
NC_000020.10:g.61463605C>T , CM000682.1:g.61463605C>T	GRCh37
NC_000020.9:g.60934050C>T	NCBI36
NG_016353.1:g.20192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1323+64C>T MANE Select	ENSP00000496793.1:n.1323+64C>T
ENST00000343916.7:c.1323+64C>T	ENSP00000341640.3:n.1323+64C>T
ENST00000466192.5:n.1050+64C>T
ENST00000469852.5:n.619+64C>T
ENST00000481800.1:n.296+64C>T
ENST00000490398.5:n.120+64C>T
NM_001853.3:c.1323+64C>T	NP_001844.3:n.1323+64C>T
XM_011528543.1:c.1323+64C>T	XP_011526845.1:n.1323+64C>T
XM_011528544.1:c.1116+64C>T	XP_011526846.1:n.1116+64C>T
XM_011528545.1:c.1323+64C>T	XP_011526847.1:n.1323+64C>T
XM_011528546.1:c.1323+64C>T	XP_011526848.1:n.1323+64C>T
XM_011528547.1:c.1323+64C>T	XP_011526849.1:n.1323+64C>T
XR_936499.1:n.1324+64C>T
NM_001853.4:c.1323+64C>T MANE Select	NP_001844.3:n.1323+64C>T
XM_017027666.1:c.1323+64C>T	XP_016883155.1:n.1323+64C>T