Canonical Allele Identifier: CA409586851

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817113G>C , CM000682.2:g.62817113G>C	GRCh38
NC_000020.10:g.61448465G>C , CM000682.1:g.61448465G>C	GRCh37
NC_000020.9:g.60918910G>C	NCBI36
NG_016353.1:g.5052G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.49G>C MANE Select	NP_001844.3:p.Gly17Arg
ENST00000649368.1:c.49G>C MANE Select	ENSP00000496793.1:p.Gly17Arg
NM_001853.3:c.49G>C	NP_001844.3:p.Gly17Arg
ENST00000343916.7:c.49G>C	ENSP00000341640.3:p.Gly17Arg
ENST00000477612.5:n.75-454G>C
XM_011528543.1:c.49G>C	XP_011526845.1:p.Gly17Arg
XM_011528545.1:c.49G>C	XP_011526847.1:p.Gly17Arg
XM_011528546.1:c.49G>C	XP_011526848.1:p.Gly17Arg
XM_011528547.1:c.49G>C	XP_011526849.1:p.Gly17Arg
XM_017027666.1:c.49G>C	XP_016883155.1:p.Gly17Arg
XR_936499.1:n.50G>C