Canonical Allele Identifier: CA2653721847

Gene: COL9A3

Linked Data

• gnomAD v4: 20-62832079-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832079T>C , CM000682.2:g.62832079T>C	GRCh38
NC_000020.10:g.61463431T>C , CM000682.1:g.61463431T>C	GRCh37
NC_000020.9:g.60933876T>C	NCBI36
NG_016353.1:g.20018T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1288-75T>C MANE Select	ENSP00000496793.1:n.1288-75T>C
ENST00000343916.7:c.1288-75T>C	ENSP00000341640.3:n.1288-75T>C
ENST00000466192.5:n.940T>C
ENST00000469852.5:n.509T>C
ENST00000481800.1:n.261-75T>C
ENST00000490398.5:n.85-75T>C
NM_001853.3:c.1288-75T>C	NP_001844.3:n.1288-75T>C
XM_011528543.1:c.1288-75T>C	XP_011526845.1:n.1288-75T>C
XM_011528544.1:c.1081-75T>C	XP_011526846.1:n.1081-75T>C
XM_011528545.1:c.1288-75T>C	XP_011526847.1:n.1288-75T>C
XM_011528546.1:c.1288-75T>C	XP_011526848.1:n.1288-75T>C
XM_011528547.1:c.1288-75T>C	XP_011526849.1:n.1288-75T>C
XR_936499.1:n.1289-75T>C
NM_001853.4:c.1288-75T>C MANE Select	NP_001844.3:n.1288-75T>C
XM_017027666.1:c.1288-75T>C	XP_016883155.1:n.1288-75T>C