Canonical Allele Identifier: CA2653721648

Gene: COL9A3

Linked Data

• gnomAD v4: 20-62831978-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62831978G>T , CM000682.2:g.62831978G>T	GRCh38
NC_000020.10:g.61463330G>T , CM000682.1:g.61463330G>T	GRCh37
NC_000020.9:g.60933775G>T	NCBI36
NG_016353.1:g.19917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1288-176G>T MANE Select	ENSP00000496793.1:n.1288-176G>T
ENST00000343916.7:c.1288-176G>T	ENSP00000341640.3:n.1288-176G>T
ENST00000466192.5:n.839G>T
ENST00000469852.5:n.408G>T
ENST00000481800.1:n.251G>T
ENST00000490398.5:n.85-176G>T
NM_001853.3:c.1288-176G>T	NP_001844.3:n.1288-176G>T
XM_011528543.1:c.1288-176G>T	XP_011526845.1:n.1288-176G>T
XM_011528544.1:c.1081-176G>T	XP_011526846.1:n.1081-176G>T
XM_011528545.1:c.1288-176G>T	XP_011526847.1:n.1288-176G>T
XM_011528546.1:c.1288-176G>T	XP_011526848.1:n.1288-176G>T
XM_011528547.1:c.1288-176G>T	XP_011526849.1:n.1288-176G>T
XR_936499.1:n.1289-176G>T
NM_001853.4:c.1288-176G>T MANE Select	NP_001844.3:n.1288-176G>T
XM_017027666.1:c.1288-176G>T	XP_016883155.1:n.1288-176G>T