Canonical Allele Identifier: CA511167045

Gene: COL9A3

Linked Data

• MyVariant Identifiers: chr20:g.61463523A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832171A>C , CM000682.2:g.62832171A>C	GRCh38
NC_000020.10:g.61463523A>C , CM000682.1:g.61463523A>C	GRCh37
NC_000020.9:g.60933968A>C	NCBI36
NG_016353.1:g.20110A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1305A>C MANE Select	ENSP00000496793.1:p.Ala435=
ENST00000343916.7:c.1305A>C	ENSP00000341640.3:p.Ala435=
ENST00000466192.5:n.1032A>C
ENST00000469852.5:n.601A>C
ENST00000481800.1:n.278A>C
ENST00000490398.5:n.102A>C
NM_001853.3:c.1305A>C	NP_001844.3:p.Ala435=
XM_011528543.1:c.1305A>C	XP_011526845.1:p.Ala435=
XM_011528544.1:c.1098A>C	XP_011526846.1:p.Ala366=
XM_011528545.1:c.1305A>C	XP_011526847.1:p.Ala435=
XM_011528546.1:c.1305A>C	XP_011526848.1:p.Ala435=
XM_011528547.1:c.1305A>C	XP_011526849.1:p.Ala435=
XR_936499.1:n.1306A>C
NM_001853.4:c.1305A>C MANE Select	NP_001844.3:p.Ala435=
XM_017027666.1:c.1305A>C	XP_016883155.1:p.Ala435=