Canonical Allele Identifier: CA406381050

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529094G>T , CM000681.2:g.45529094G>T	GRCh38
NC_000019.9:g.46032352G>T , CM000681.1:g.46032352G>T	GRCh37
NC_000019.8:g.50724192G>T	NCBI36
NG_013332.1:g.60771C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.505C>A	NP_001017989.2:p.Pro169Thr
NM_001017989.3:c.505C>A	NP_001017989.2:p.Pro169Thr
ENST00000323060.3:c.505C>A	ENSP00000319817.3:p.Pro169Thr
ENST00000323060.4:c.505C>A	ENSP00000319817.3:p.Pro169Thr
XM_011527348.1:c.346C>A	XP_011525650.1:p.Pro116Thr