Canonical Allele Identifier: CA10648871
Gene: OPA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 329618
ClinVar RCV Id: RCV000270181 RCV000362443
dbSNP Id: rs886054525
gnomAD v2: 19-46052927-G-A
gnomAD v3: 19-45549669-G-A
gnomAD v4: 19-45549669-G-A
MyVariant Identifiers: chr19:g.46052927G>A (hg19) chr19:g.45549669G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45549669G>A , CM000681.2:g.45549669G>A GRCh38
NC_000019.9:g.46052927G>A , CM000681.1:g.46052927G>A GRCh37
NC_000019.8:g.50744767G>A NCBI36
NG_013332.1:g.40196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-20213C>T ENSP00000319817.3:n.143-20213C>T
ENST00000263275.5:c.*3845C>T MANE Select ENSP00000263275.4:n.*3845C>T
ENST00000263275.4:c.*3845C>T ENSP00000263275.3:n.*3845C>T
ENST00000323060.3:c.143-20213C>T ENSP00000319817.3:n.143-20213C>T
NM_001017989.2:c.143-20213C>T NP_001017989.2:n.143-20213C>T
NM_025136.3:c.*3845C>T NP_079412.1:n.*3845C>T
XM_011527348.1:c.-17-20213C>T XP_011525650.1:n.-17-20213C>T
XM_006723403.4:c.*3845C>T XP_006723466.1:n.*3845C>T
NM_001017989.3:c.143-20213C>T NP_001017989.2:n.143-20213C>T
NM_025136.4:c.*3845C>T MANE Select NP_079412.1:n.*3845C>T
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