Canonical Allele Identifier: CA9948990

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817148C>T , CM000682.2:g.62817148C>T	GRCh38
NC_000020.10:g.61448500C>T , CM000682.1:g.61448500C>T	GRCh37
NC_000020.9:g.60918945C>T	NCBI36
NG_016353.1:g.5087C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.78+6C>T MANE Select	NP_001844.3:n.78+6C>T
ENST00000649368.1:c.78+6C>T MANE Select	ENSP00000496793.1:n.78+6C>T
NM_001853.3:c.78+6C>T	NP_001844.3:n.78+6C>T
ENST00000343916.7:c.78+6C>T	ENSP00000341640.3:n.78+6C>T
ENST00000477612.5:n.75-419C>T
XM_011528543.1:c.78+6C>T	XP_011526845.1:n.78+6C>T
XM_011528545.1:c.78+6C>T	XP_011526847.1:n.78+6C>T
XM_011528546.1:c.78+6C>T	XP_011526848.1:n.78+6C>T
XM_011528547.1:c.78+6C>T	XP_011526849.1:n.78+6C>T
XM_017027666.1:c.78+6C>T	XP_016883155.1:n.78+6C>T
XR_936499.1:n.79+6C>T