Canonical Allele Identifier: CA9949009

Gene: COL9A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62817645G>C , CM000682.2:g.62817645G>C	GRCh38
NC_000020.10:g.61448997G>C , CM000682.1:g.61448997G>C	GRCh37
NC_000020.9:g.60919442G>C	NCBI36
NG_016353.1:g.5584G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001853.4:c.147+10G>C MANE Select	NP_001844.3:n.147+10G>C
ENST00000649368.1:c.147+10G>C MANE Select	ENSP00000496793.1:n.147+10G>C
NM_001853.3:c.147+10G>C	NP_001844.3:n.147+10G>C
ENST00000343916.7:c.147+10G>C	ENSP00000341640.3:n.147+10G>C
ENST00000477612.5:n.143+10G>C
ENST00000489045.5:n.193+10G>C
XM_011528543.1:c.147+10G>C	XP_011526845.1:n.147+10G>C
XM_011528545.1:c.147+10G>C	XP_011526847.1:n.147+10G>C
XM_011528546.1:c.147+10G>C	XP_011526848.1:n.147+10G>C
XM_011528547.1:c.147+10G>C	XP_011526849.1:n.147+10G>C
XM_017027666.1:c.147+10G>C	XP_016883155.1:n.147+10G>C
XR_936499.1:n.148+10G>C