Canonical Allele Identifier: CA406370373

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45553686C>G , CM000681.2:g.45553686C>G	GRCh38
NC_000019.9:g.46056944C>G , CM000681.1:g.46056944C>G	GRCh37
NC_000019.8:g.50748784C>G	NCBI36
NG_013332.1:g.36179G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025136.4:c.368G>C MANE Select	NP_079412.1:p.Arg123Pro
ENST00000263275.5:c.368G>C MANE Select	ENSP00000263275.4:p.Arg123Pro
NM_001017989.2:c.143-24230G>C	NP_001017989.2:n.143-24230G>C
NM_001017989.3:c.143-24230G>C	NP_001017989.2:n.143-24230G>C
NM_025136.3:c.368G>C	NP_079412.1:p.Arg123Pro
ENST00000263275.4:c.368G>C	ENSP00000263275.3:p.Arg123Pro
ENST00000323060.3:c.143-24230G>C	ENSP00000319817.3:n.143-24230G>C
ENST00000323060.4:c.143-24230G>C	ENSP00000319817.3:n.143-24230G>C
ENST00000544371.1:c.209G>C	ENSP00000442839.1:p.Arg70Pro
XM_005259278.2:c.209G>C	XP_005259335.1:p.Arg70Pro
XM_006723403.2:c.209G>C	XP_006723466.1:p.Arg70Pro
XM_006723403.4:c.209G>C	XP_006723466.1:p.Arg70Pro
XM_011527348.1:c.-17-24230G>C	XP_011525650.1:n.-17-24230G>C