Canonical Allele Identifier: CA409595989

Gene: COL9A3

Linked Data

• MyVariant Identifiers: chr20:g.61463524G>C (hg19) ; chr20:g.62832172G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62832172G>C , CM000682.2:g.62832172G>C	GRCh38
NC_000020.10:g.61463524G>C , CM000682.1:g.61463524G>C	GRCh37
NC_000020.9:g.60933969G>C	NCBI36
NG_016353.1:g.20111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649368.1:c.1306G>C MANE Select	ENSP00000496793.1:p.Gly436Arg
ENST00000343916.7:c.1306G>C	ENSP00000341640.3:p.Gly436Arg
ENST00000466192.5:n.1033G>C
ENST00000469852.5:n.602G>C
ENST00000481800.1:n.279G>C
ENST00000490398.5:n.103G>C
NM_001853.3:c.1306G>C	NP_001844.3:p.Gly436Arg
XM_011528543.1:c.1306G>C	XP_011526845.1:p.Gly436Arg
XM_011528544.1:c.1099G>C	XP_011526846.1:p.Gly367Arg
XM_011528545.1:c.1306G>C	XP_011526847.1:p.Gly436Arg
XM_011528546.1:c.1306G>C	XP_011526848.1:p.Gly436Arg
XM_011528547.1:c.1306G>C	XP_011526849.1:p.Gly436Arg
XR_936499.1:n.1307G>C
NM_001853.4:c.1306G>C MANE Select	NP_001844.3:p.Gly436Arg
XM_017027666.1:c.1306G>C	XP_016883155.1:p.Gly436Arg