Canonical Allele Identifier: CA16043699
Gene: COL9A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374320
ClinVar RCV Id: RCV000415238 RCV002521463
dbSNP Id: rs1057518693
MyVariant Identifiers: chr20:g.61452884T>C (hg19) chr20:g.62821532T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.62821532T>C , CM000682.2:g.62821532T>C GRCh38
NC_000020.10:g.61452884T>C , CM000682.1:g.61452884T>C GRCh37
NC_000020.9:g.60923329T>C NCBI36
NG_016353.1:g.9471T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452372.2:c.258+2T>C ENSP00000394280.1:n.258+2T>C
ENST00000649368.1:c.369+2T>C MANE Select ENSP00000496793.1:n.369+2T>C
ENST00000343916.7:c.369+2T>C ENSP00000341640.3:n.369+2T>C
ENST00000452372.1:c.258+2T>C ENSP00000394280.1:n.258+2T>C
ENST00000477612.5:n.365+2T>C
ENST00000489045.5:n.415+2T>C
NM_001853.3:c.369+2T>C NP_001844.3:n.369+2T>C
XM_011528543.1:c.369+2T>C XP_011526845.1:n.369+2T>C
XM_011528544.1:c.162+2T>C XP_011526846.1:n.162+2T>C
XM_011528545.1:c.369+2T>C XP_011526847.1:n.369+2T>C
XM_011528546.1:c.369+2T>C XP_011526848.1:n.369+2T>C
XM_011528547.1:c.369+2T>C XP_011526849.1:n.369+2T>C
XR_936499.1:n.370+2T>C
NM_001853.4:c.369+2T>C MANE Select NP_001844.3:n.369+2T>C
XM_017027666.1:c.369+2T>C XP_016883155.1:n.369+2T>C
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