Canonical Allele Identifier: CA409587021

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817565A>G , CM000682.2:g.62817565A>G	GRCh38
NC_000020.10:g.61448917A>G , CM000682.1:g.61448917A>G	GRCh37
NC_000020.9:g.60919362A>G	NCBI36
NG_016353.1:g.5504A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.79-2A>G MANE Select	NP_001844.3:n.79-2A>G
ENST00000649368.1:c.79-2A>G MANE Select	ENSP00000496793.1:n.79-2A>G
NM_001853.3:c.79-2A>G	NP_001844.3:n.79-2A>G
ENST00000343916.7:c.79-2A>G	ENSP00000341640.3:n.79-2A>G
ENST00000477612.5:n.75-2A>G
ENST00000489045.5:n.123A>G
XM_011528543.1:c.79-2A>G	XP_011526845.1:n.79-2A>G
XM_011528545.1:c.79-2A>G	XP_011526847.1:n.79-2A>G
XM_011528546.1:c.79-2A>G	XP_011526848.1:n.79-2A>G
XM_011528547.1:c.79-2A>G	XP_011526849.1:n.79-2A>G
XM_017027666.1:c.79-2A>G	XP_016883155.1:n.79-2A>G
XR_936499.1:n.80-2A>G