Canonical Allele Identifier: CA14690654
Gene: OPA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45531300C>T , CM000681.2:g.45531300C>T GRCh38
NC_000019.9:g.46034558C>T , CM000681.1:g.46034558C>T GRCh37
NC_000019.8:g.50726398C>T NCBI36
NG_013332.1:g.58565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-1844G>A ENSP00000319817.3:n.143-1844G>A
ENST00000323060.3:c.143-1844G>A ENSP00000319817.3:n.143-1844G>A
NM_001017989.2:c.143-1844G>A NP_001017989.2:n.143-1844G>A
XM_011527348.1:c.-17-1844G>A XP_011525650.1:n.-17-1844G>A
NM_001017989.3:c.143-1844G>A NP_001017989.2:n.143-1844G>A