Canonical Allele Identifier: CA409588322

Gene: COL9A3

Linked Data

• dbSNP Id: rs766029215
• gnomAD v2: 20-61452883-G-T
• gnomAD v3: 20-62821531-G-T
• gnomAD v4: 20-62821531-G-T
• MyVariant Identifiers: chr20:g.61452883G>T (hg19) ; chr20:g.62821531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62821531G>T , CM000682.2:g.62821531G>T	GRCh38
NC_000020.10:g.61452883G>T , CM000682.1:g.61452883G>T	GRCh37
NC_000020.9:g.60923328G>T	NCBI36
NG_016353.1:g.9470G>T

Transcript Alleles

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