Canonical Allele Identifier: CA406381019

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529088C>G , CM000681.2:g.45529088C>G	GRCh38
NC_000019.9:g.46032346C>G , CM000681.1:g.46032346C>G	GRCh37
NC_000019.8:g.50724186C>G	NCBI36
NG_013332.1:g.60777G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.511G>C	NP_001017989.2:p.Ala171Pro
NM_001017989.3:c.511G>C	NP_001017989.2:p.Ala171Pro
ENST00000323060.3:c.511G>C	ENSP00000319817.3:p.Ala171Pro
ENST00000323060.4:c.511G>C	ENSP00000319817.3:p.Ala171Pro
XM_011527348.1:c.352G>C	XP_011525650.1:p.Ala118Pro