Canonical Allele Identifier: CA406381041

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529093G>C , CM000681.2:g.45529093G>C	GRCh38
NC_000019.9:g.46032351G>C , CM000681.1:g.46032351G>C	GRCh37
NC_000019.8:g.50724191G>C	NCBI36
NG_013332.1:g.60772C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.506C>G	NP_001017989.2:p.Pro169Arg
NM_001017989.3:c.506C>G	NP_001017989.2:p.Pro169Arg
ENST00000323060.3:c.506C>G	ENSP00000319817.3:p.Pro169Arg
ENST00000323060.4:c.506C>G	ENSP00000319817.3:p.Pro169Arg
XM_011527348.1:c.347C>G	XP_011525650.1:p.Pro116Arg