Canonical Allele Identifier: CA2338489716

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45553639G= , CM000681.2:g.45553639G=	GRCh38
NC_000019.9:g.46056897G= , CM000681.1:g.46056897G=	GRCh37
NC_000019.8:g.50748737G=	NCBI36
NG_013332.1:g.36226C=

Transcript Alleles

HGVS	Amino-acid Change
NM_025136.4:c.415C= MANE Select	NP_079412.1:p.Gln139=
ENST00000263275.5:c.415C= MANE Select	ENSP00000263275.4:p.Gln139=
NM_001017989.2:c.143-24183C=	NP_001017989.2:n.143-24183C=
NM_001017989.3:c.143-24183C=	NP_001017989.2:n.143-24183C=
NM_025136.3:c.415C=	NP_079412.1:p.Gln139=
ENST00000263275.4:c.415C=	ENSP00000263275.3:p.Gln139=
ENST00000323060.3:c.143-24183C=	ENSP00000319817.3:n.143-24183C=
ENST00000323060.4:c.143-24183C=	ENSP00000319817.3:n.143-24183C=
ENST00000544371.1:c.256C=	ENSP00000442839.1:p.Gln86=
XM_005259278.2:c.256C=	XP_005259335.1:p.Gln86=
XM_006723403.2:c.256C=	XP_006723466.1:p.Gln86=
XM_006723403.4:c.256C=	XP_006723466.1:p.Gln86=
XM_011527348.1:c.-17-24183C=	XP_011525650.1:n.-17-24183C=