Canonical Allele Identifier: CA507825387

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45584630C>G , CM000681.2:g.45584630C>G	GRCh38
NC_000019.9:g.46087888C>G , CM000681.1:g.46087888C>G	GRCh37
NC_000019.8:g.50779728C>G	NCBI36
NG_013332.1:g.5235G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_025136.4:c.135G>C MANE Select	NP_079412.1:p.Pro45=
ENST00000263275.5:c.135G>C MANE Select	ENSP00000263275.4:p.Pro45=
NM_001017989.2:c.135G>C	NP_001017989.2:p.Pro45=
NM_001017989.3:c.135G>C	NP_001017989.2:p.Pro45=
NM_025136.3:c.135G>C	NP_079412.1:p.Pro45=
ENST00000263275.4:c.135G>C	ENSP00000263275.3:p.Pro45=
ENST00000323060.3:c.135G>C	ENSP00000319817.3:p.Pro45=
ENST00000323060.4:c.135G>C	ENSP00000319817.3:p.Pro45=
ENST00000544371.1:c.-18+17465G>C	ENSP00000442839.1:n.-18+17465G>C
XM_006723403.2:c.-165G>C	XP_006723466.1:n.-165G>C
XM_006723403.4:c.-165G>C	XP_006723466.1:n.-165G>C