Canonical Allele Identifier: CA10652087
Gene: OPA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 329566
ClinVar RCV Id: RCV000310149 RCV000393711
dbSNP Id: rs114655581
gnomAD v2: 19-46050478-T-G
gnomAD v3: 19-45547220-T-G
gnomAD v4: 19-45547220-T-G
MyVariant Identifiers: chr19:g.46050478T>G (hg19) chr19:g.45547220T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45547220T>G , CM000681.2:g.45547220T>G GRCh38
NC_000019.9:g.46050478T>G , CM000681.1:g.46050478T>G GRCh37
NC_000019.8:g.50742318T>G NCBI36
NG_013332.1:g.42645A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000323060.4:c.143-17764A>C ENSP00000319817.3:n.143-17764A>C
ENST00000263275.5:c.*6294A>C MANE Select ENSP00000263275.4:n.*6294A>C
ENST00000263275.4:c.*6294A>C ENSP00000263275.3:n.*6294A>C
ENST00000323060.3:c.143-17764A>C ENSP00000319817.3:n.143-17764A>C
NM_001017989.2:c.143-17764A>C NP_001017989.2:n.143-17764A>C
NM_025136.3:c.*6294A>C NP_079412.1:n.*6294A>C
XM_011527348.1:c.-17-17764A>C XP_011525650.1:n.-17-17764A>C
NM_001017989.3:c.143-17764A>C NP_001017989.2:n.143-17764A>C
NM_025136.4:c.*6294A>C MANE Select NP_079412.1:n.*6294A>C
Search 100 bp 5'
Search 100 bp 3'