Canonical Allele Identifier: CA2958837631

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529085dup , CM000681.2:g.45529085dup	GRCh38
NC_000019.9:g.46032343dup , CM000681.1:g.46032343dup	GRCh37
NC_000019.8:g.50724183dup	NCBI36
NG_013332.1:g.60784dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001017989.2:c.518dup	NP_001017989.2:p.Val174SerfsTer?
NM_001017989.3:c.518dup	NP_001017989.2:p.Val174SerfsTer?
ENST00000323060.3:c.518dup	ENSP00000319817.3:p.Val174SerfsTer?
ENST00000323060.4:c.518dup	ENSP00000319817.3:p.Val174SerfsTer?
XM_011527348.1:c.359dup	XP_011525650.1:p.Val121SerfsTer?