Canonical Allele Identifier: CA16609006

Gene: OPA3

Linked Data

• ClinVar Variation Id: 381038
• ClinVar RCV Id: RCV000438063
• dbSNP Id: rs1057520935
• gnomAD v4: 19-45529377-A-C
• MyVariant Identifiers: chr19:g.46032635A>C (hg19) ; chr19:g.45529377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45529377A>C , CM000681.2:g.45529377A>C	GRCh38
NC_000019.9:g.46032635A>C , CM000681.1:g.46032635A>C	GRCh37
NC_000019.8:g.50724475A>C	NCBI36
NG_013332.1:g.60488T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.222T>G	ENSP00000319817.3:p.Gly74=
ENST00000323060.3:c.222T>G	ENSP00000319817.3:p.Gly74=
NM_001017989.2:c.222T>G	NP_001017989.2:p.Gly74=
XM_011527348.1:c.63T>G	XP_011525650.1:p.Gly21=
NM_001017989.3:c.222T>G	NP_001017989.2:p.Gly74=