Canonical Allele Identifier: CA2338489798
Gene: OPA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45553777C= , CM000681.2:g.45553777C= GRCh38
NC_000019.9:g.46057035C= , CM000681.1:g.46057035C= GRCh37
NC_000019.8:g.50748875C= NCBI36
NG_013332.1:g.36088G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-24321G= ENSP00000319817.3:n.143-24321G=
ENST00000263275.5:c.277G= MANE Select ENSP00000263275.4:p.Gly93=
ENST00000263275.4:c.277G= ENSP00000263275.3:p.Gly93=
ENST00000323060.3:c.143-24321G= ENSP00000319817.3:n.143-24321G=
ENST00000544371.1:c.118G= ENSP00000442839.1:p.Gly40=
NM_001017989.2:c.143-24321G= NP_001017989.2:n.143-24321G=
NM_025136.3:c.277G= NP_079412.1:p.Gly93=
XM_005259278.2:c.118G= XP_005259335.1:p.Gly40=
XM_006723403.2:c.118G= XP_006723466.1:p.Gly40=
XM_011527348.1:c.-17-24321G= XP_011525650.1:n.-17-24321G=
XM_006723403.4:c.118G= XP_006723466.1:p.Gly40=
NM_001017989.3:c.143-24321G= NP_001017989.2:n.143-24321G=
NM_025136.4:c.277G= MANE Select NP_079412.1:p.Gly93=