Canonical Allele Identifier: CA406381028

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529090G>C , CM000681.2:g.45529090G>C	GRCh38
NC_000019.9:g.46032348G>C , CM000681.1:g.46032348G>C	GRCh37
NC_000019.8:g.50724188G>C	NCBI36
NG_013332.1:g.60775C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.509C>G	NP_001017989.2:p.Pro170Arg
NM_001017989.3:c.509C>G	NP_001017989.2:p.Pro170Arg
ENST00000323060.3:c.509C>G	ENSP00000319817.3:p.Pro170Arg
ENST00000323060.4:c.509C>G	ENSP00000319817.3:p.Pro170Arg
XM_011527348.1:c.350C>G	XP_011525650.1:p.Pro117Arg