Canonical Allele Identifier: CA406381031

Gene: OPA3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.509C>A	NP_001017989.2:p.Pro170His
NM_001017989.3:c.509C>A	NP_001017989.2:p.Pro170His
ENST00000323060.3:c.509C>A	ENSP00000319817.3:p.Pro170His
ENST00000323060.4:c.509C>A	ENSP00000319817.3:p.Pro170His
XM_011527348.1:c.350C>A	XP_011525650.1:p.Pro117His