Canonical Allele Identifier: CA409587089
Community Standard Title: NM_001853.4(COL9A3):c.97C>G (p.Pro33Ala)
Gene: COL9A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62817585C>G , CM000682.2:g.62817585C>G GRCh38
NC_000020.10:g.61448937C>G , CM000682.1:g.61448937C>G GRCh37
NC_000020.9:g.60919382C>G NCBI36
NG_016353.1:g.5524C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001853.4:c.97C>G MANE Select NP_001844.3:p.Pro33Ala
ENST00000649368.1:c.97C>G MANE Select ENSP00000496793.1:p.Pro33Ala
NM_001853.3:c.97C>G NP_001844.3:p.Pro33Ala
ENST00000343916.7:c.97C>G ENSP00000341640.3:p.Pro33Ala
ENST00000477612.5:n.93C>G
ENST00000489045.5:n.143C>G
XM_011528543.1:c.97C>G XP_011526845.1:p.Pro33Ala
XM_011528545.1:c.97C>G XP_011526847.1:p.Pro33Ala
XM_011528546.1:c.97C>G XP_011526848.1:p.Pro33Ala
XM_011528547.1:c.97C>G XP_011526849.1:p.Pro33Ala
XM_017027666.1:c.97C>G XP_016883155.1:p.Pro33Ala
XR_936499.1:n.98C>G