Canonical Allele Identifier: CA9948998
Community Standard Title: NM_001853.4(COL9A3):c.79-7G>A
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62817560G>A , CM000682.2:g.62817560G>A GRCh38
NC_000020.10:g.61448912G>A , CM000682.1:g.61448912G>A GRCh37
NC_000020.9:g.60919357G>A NCBI36
NG_016353.1:g.5499G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.79-7G>A MANE Select NP_001844.3:n.79-7G>A
ENST00000649368.1:c.79-7G>A MANE Select ENSP00000496793.1:n.79-7G>A
NM_001853.3:c.79-7G>A NP_001844.3:n.79-7G>A
ENST00000343916.7:c.79-7G>A ENSP00000341640.3:n.79-7G>A
ENST00000477612.5:n.75-7G>A
ENST00000489045.5:n.118G>A
XM_011528543.1:c.79-7G>A XP_011526845.1:n.79-7G>A
XM_011528545.1:c.79-7G>A XP_011526847.1:n.79-7G>A
XM_011528546.1:c.79-7G>A XP_011526848.1:n.79-7G>A
XM_011528547.1:c.79-7G>A XP_011526849.1:n.79-7G>A
XM_017027666.1:c.79-7G>A XP_016883155.1:n.79-7G>A
XR_936499.1:n.80-7G>A