Canonical Allele Identifier: CA2585824973

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45553598C>A , CM000681.2:g.45553598C>A	GRCh38
NC_000019.9:g.46056856C>A , CM000681.1:g.46056856C>A	GRCh37
NC_000019.8:g.50748696C>A	NCBI36
NG_013332.1:g.36267G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025136.4:c.456G>T MANE Select	NP_079412.1:p.Leu152=
ENST00000263275.5:c.456G>T MANE Select	ENSP00000263275.4:p.Leu152=
NM_001017989.2:c.143-24142G>T	NP_001017989.2:n.143-24142G>T
NM_001017989.3:c.143-24142G>T	NP_001017989.2:n.143-24142G>T
NM_025136.3:c.456G>T	NP_079412.1:p.Leu152=
ENST00000263275.4:c.456G>T	ENSP00000263275.3:p.Leu152=
ENST00000323060.3:c.143-24142G>T	ENSP00000319817.3:n.143-24142G>T
ENST00000323060.4:c.143-24142G>T	ENSP00000319817.3:n.143-24142G>T
ENST00000544371.1:c.297G>T	ENSP00000442839.1:p.Leu99=
XM_005259278.2:c.297G>T	XP_005259335.1:p.Leu99=
XM_006723403.2:c.297G>T	XP_006723466.1:p.Leu99=
XM_006723403.4:c.297G>T	XP_006723466.1:p.Leu99=
XM_011527348.1:c.-17-24142G>T	XP_011525650.1:n.-17-24142G>T