Canonical Allele Identifier: CA212995
Gene: COL9A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62818517G>A , CM000682.2:g.62818517G>A GRCh38
NC_000020.10:g.61449869G>A , CM000682.1:g.61449869G>A GRCh37
NC_000020.9:g.60920314G>A NCBI36
NG_016353.1:g.6456G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452372.2:c.37-1G>A ENSP00000394280.1:n.37-1G>A
ENST00000649368.1:c.148-1G>A MANE Select ENSP00000496793.1:n.148-1G>A
ENST00000343916.7:c.148-1G>A ENSP00000341640.3:n.148-1G>A
ENST00000452372.1:c.37-1G>A ENSP00000394280.1:n.37-1G>A
ENST00000477612.5:n.144-1G>A
ENST00000489045.5:n.194-1G>A
NM_001853.3:c.148-1G>A NP_001844.3:n.148-1G>A
XM_011528543.1:c.148-1G>A XP_011526845.1:n.148-1G>A
XM_011528545.1:c.148-1G>A XP_011526847.1:n.148-1G>A
XM_011528546.1:c.148-1G>A XP_011526848.1:n.148-1G>A
XM_011528547.1:c.148-1G>A XP_011526849.1:n.148-1G>A
XR_936499.1:n.149-1G>A
NM_001853.4:c.148-1G>A MANE Select NP_001844.3:n.148-1G>A
XM_017027666.1:c.148-1G>A XP_016883155.1:n.148-1G>A
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