Canonical Allele Identifier: CA9949130
Gene: COL9A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 258422
ClinVar RCV Id: RCV000249161 RCV000991657
dbSNP Id: rs35908728
ExAC: 20:61451305 C / T
gnomAD v2: 20-61451305-C-T
gnomAD v3: 20-62819953-C-T
gnomAD v4: 20-62819953-C-T
MyVariant Identifiers: chr20:g.61451305C>T (hg19) chr20:g.62819953C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000452372.2:c.169C>T ENSP00000394280.1:p.Pro57Ser
ENST00000649368.1:c.280C>T MANE Select ENSP00000496793.1:p.Pro94Ser
ENST00000343916.7:c.280C>T ENSP00000341640.3:p.Pro94Ser
ENST00000452372.1:c.169C>T ENSP00000394280.1:p.Pro57Ser
ENST00000477612.5:n.276C>T
ENST00000489045.5:n.326C>T
NM_001853.3:c.280C>T NP_001844.3:p.Pro94Ser
XM_011528543.1:c.280C>T XP_011526845.1:p.Pro94Ser
XM_011528544.1:c.9C>T XP_011526846.1:p.Pro3=
XM_011528545.1:c.280C>T XP_011526847.1:p.Pro94Ser
XM_011528546.1:c.280C>T XP_011526848.1:p.Pro94Ser
XM_011528547.1:c.280C>T XP_011526849.1:p.Pro94Ser
XR_936499.1:n.281C>T
NM_001853.4:c.280C>T MANE Select NP_001844.3:p.Pro94Ser
XM_017027666.1:c.280C>T XP_016883155.1:p.Pro94Ser
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