Canonical Allele Identifier: CA2838543402

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45553781G>T , CM000681.2:g.45553781G>T	GRCh38
NC_000019.9:g.46057039G>T , CM000681.1:g.46057039G>T	GRCh37
NC_000019.8:g.50748879G>T	NCBI36
NG_013332.1:g.36084C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.143-24325C>A	ENSP00000319817.3:n.143-24325C>A
ENST00000263275.5:c.273C>A MANE Select	ENSP00000263275.4:p.Ile91=
ENST00000263275.4:c.273C>A	ENSP00000263275.3:p.Ile91=
ENST00000323060.3:c.143-24325C>A	ENSP00000319817.3:n.143-24325C>A
ENST00000544371.1:c.114C>A	ENSP00000442839.1:p.Ile38=
NM_001017989.2:c.143-24325C>A	NP_001017989.2:n.143-24325C>A
NM_025136.3:c.273C>A	NP_079412.1:p.Ile91=
XM_005259278.2:c.114C>A	XP_005259335.1:p.Ile38=
XM_006723403.2:c.114C>A	XP_006723466.1:p.Ile38=
XM_011527348.1:c.-17-24325C>A	XP_011525650.1:n.-17-24325C>A
XM_006723403.4:c.114C>A	XP_006723466.1:p.Ile38=
NM_001017989.3:c.143-24325C>A	NP_001017989.2:n.143-24325C>A
NM_025136.4:c.273C>A MANE Select	NP_079412.1:p.Ile91=