Canonical Allele Identifier: CA2653721838

Gene: COL9A3

Linked Data

• gnomAD v4: 20-62832075-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832075A>C , CM000682.2:g.62832075A>C	GRCh38
NC_000020.10:g.61463427A>C , CM000682.1:g.61463427A>C	GRCh37
NC_000020.9:g.60933872A>C	NCBI36
NG_016353.1:g.20014A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1288-79A>C MANE Select	ENSP00000496793.1:n.1288-79A>C
ENST00000343916.7:c.1288-79A>C	ENSP00000341640.3:n.1288-79A>C
ENST00000466192.5:n.936A>C
ENST00000469852.5:n.505A>C
ENST00000481800.1:n.261-79A>C
ENST00000490398.5:n.85-79A>C
NM_001853.3:c.1288-79A>C	NP_001844.3:n.1288-79A>C
XM_011528543.1:c.1288-79A>C	XP_011526845.1:n.1288-79A>C
XM_011528544.1:c.1081-79A>C	XP_011526846.1:n.1081-79A>C
XM_011528545.1:c.1288-79A>C	XP_011526847.1:n.1288-79A>C
XM_011528546.1:c.1288-79A>C	XP_011526848.1:n.1288-79A>C
XM_011528547.1:c.1288-79A>C	XP_011526849.1:n.1288-79A>C
XR_936499.1:n.1289-79A>C
NM_001853.4:c.1288-79A>C MANE Select	NP_001844.3:n.1288-79A>C
XM_017027666.1:c.1288-79A>C	XP_016883155.1:n.1288-79A>C