Canonical Allele Identifier: CA406381022

Gene: OPA3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.511G>A	NP_001017989.2:p.Ala171Thr
NM_001017989.3:c.511G>A	NP_001017989.2:p.Ala171Thr
ENST00000323060.3:c.511G>A	ENSP00000319817.3:p.Ala171Thr
ENST00000323060.4:c.511G>A	ENSP00000319817.3:p.Ala171Thr
XM_011527348.1:c.352G>A	XP_011525650.1:p.Ala118Thr