Canonical Allele Identifier: CA409587189

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817618G>T , CM000682.2:g.62817618G>T	GRCh38
NC_000020.10:g.61448970G>T , CM000682.1:g.61448970G>T	GRCh37
NC_000020.9:g.60919415G>T	NCBI36
NG_016353.1:g.5557G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.130G>T MANE Select	NP_001844.3:p.Gly44Cys
ENST00000649368.1:c.130G>T MANE Select	ENSP00000496793.1:p.Gly44Cys
NM_001853.3:c.130G>T	NP_001844.3:p.Gly44Cys
ENST00000343916.7:c.130G>T	ENSP00000341640.3:p.Gly44Cys
ENST00000477612.5:n.126G>T
ENST00000489045.5:n.176G>T
XM_011528543.1:c.130G>T	XP_011526845.1:p.Gly44Cys
XM_011528545.1:c.130G>T	XP_011526847.1:p.Gly44Cys
XM_011528546.1:c.130G>T	XP_011526848.1:p.Gly44Cys
XM_011528547.1:c.130G>T	XP_011526849.1:p.Gly44Cys
XM_017027666.1:c.130G>T	XP_016883155.1:p.Gly44Cys
XR_936499.1:n.131G>T