Canonical Allele Identifier: CA10642974

Gene: OPA3

Linked Data

• ClinVar Variation Id: 329581
• ClinVar RCV Id: RCV000333052 ; RCV000382984
• dbSNP Id: rs886054510
• gnomAD v3: 19-45547740-C-G
• gnomAD v4: 19-45547740-C-G
• MyVariant Identifiers: chr19:g.46050998C>G (hg19) ; chr19:g.45547740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45547740C>G , CM000681.2:g.45547740C>G	GRCh38
NC_000019.9:g.46050998C>G , CM000681.1:g.46050998C>G	GRCh37
NC_000019.8:g.50742838C>G	NCBI36
NG_013332.1:g.42125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.143-18284G>C	ENSP00000319817.3:n.143-18284G>C
ENST00000263275.5:c.*5774G>C MANE Select	ENSP00000263275.4:n.*5774G>C
ENST00000263275.4:c.*5774G>C	ENSP00000263275.3:n.*5774G>C
ENST00000323060.3:c.143-18284G>C	ENSP00000319817.3:n.143-18284G>C
NM_001017989.2:c.143-18284G>C	NP_001017989.2:n.143-18284G>C
NM_025136.3:c.*5774G>C	NP_079412.1:n.*5774G>C
XM_011527348.1:c.-17-18284G>C	XP_011525650.1:n.-17-18284G>C
NM_001017989.3:c.143-18284G>C	NP_001017989.2:n.143-18284G>C
NM_025136.4:c.*5774G>C MANE Select	NP_079412.1:n.*5774G>C