Canonical Allele Identifier: CA409596001

Gene: COL9A3

Linked Data

• dbSNP Id: rs1481425628
• gnomAD v3: 20-62832176-C-T
• gnomAD v4: 20-62832176-C-T
• MyVariant Identifiers: chr20:g.61463528C>T (hg19) ; chr20:g.62832176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832176C>T , CM000682.2:g.62832176C>T	GRCh38
NC_000020.10:g.61463528C>T , CM000682.1:g.61463528C>T	GRCh37
NC_000020.9:g.60933973C>T	NCBI36
NG_016353.1:g.20115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649368.1:c.1310C>T MANE Select	ENSP00000496793.1:p.Pro437Leu
ENST00000343916.7:c.1310C>T	ENSP00000341640.3:p.Pro437Leu
ENST00000466192.5:n.1037C>T
ENST00000469852.5:n.606C>T
ENST00000481800.1:n.283C>T
ENST00000490398.5:n.107C>T
NM_001853.3:c.1310C>T	NP_001844.3:p.Pro437Leu
XM_011528543.1:c.1310C>T	XP_011526845.1:p.Pro437Leu
XM_011528544.1:c.1103C>T	XP_011526846.1:p.Pro368Leu
XM_011528545.1:c.1310C>T	XP_011526847.1:p.Pro437Leu
XM_011528546.1:c.1310C>T	XP_011526848.1:p.Pro437Leu
XM_011528547.1:c.1310C>T	XP_011526849.1:p.Pro437Leu
XR_936499.1:n.1311C>T
NM_001853.4:c.1310C>T MANE Select	NP_001844.3:p.Pro437Leu
XM_017027666.1:c.1310C>T	XP_016883155.1:p.Pro437Leu