Canonical Allele Identifier: CA2374462506
Community Standard Title: NM_001853.4(COL9A3):c.280C= (p.Pro94=)
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62819953C= , CM000682.2:g.62819953C= GRCh38
NC_000020.10:g.61451305C= , CM000682.1:g.61451305C= GRCh37
NC_000020.9:g.60921750C= NCBI36
NG_016353.1:g.7892C=

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.280C= MANE Select NP_001844.3:p.Pro94=
ENST00000649368.1:c.280C= MANE Select ENSP00000496793.1:p.Pro94=
NM_001853.3:c.280C= NP_001844.3:p.Pro94=
ENST00000343916.7:c.280C= ENSP00000341640.3:p.Pro94=
ENST00000452372.1:c.169C= ENSP00000394280.1:p.Pro57=
ENST00000452372.2:c.169C= ENSP00000394280.1:p.Pro57=
ENST00000477612.5:n.276C=
ENST00000489045.5:n.326C=
XM_011528543.1:c.280C= XP_011526845.1:p.Pro94=
XM_011528544.1:c.9C= XP_011526846.1:p.Pro3=
XM_011528545.1:c.280C= XP_011526847.1:p.Pro94=
XM_011528546.1:c.280C= XP_011526848.1:p.Pro94=
XM_011528547.1:c.280C= XP_011526849.1:p.Pro94=
XM_017027666.1:c.280C= XP_016883155.1:p.Pro94=
XR_936499.1:n.281C=