Canonical Allele Identifier: CA633339182
Gene: OPA3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.45548741T>C
GRCh37 chr19:g.46051999T>C
gnomAD v2:
19:46051999 T / C
gnomAD v3:
19:45548741 T / C
gnomAD v4:
chr19-45548741-T-C
Joint Max Group AF 0.00003645 (NFE)
Genomes Max Group AF 0.00005845 (NFE)
Exomes Max Group AF 0.00003051 (NFE)
ClinVar RCV:
RCV001134767
RCV001134768
ClinVar Variation:
894341
dbSNP:
1409082190
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45548741T>C , CM000681.2:g.45548741T>C GRCh38
NC_000019.9:g.46051999T>C , CM000681.1:g.46051999T>C GRCh37
NC_000019.8:g.50743839T>C NCBI36
NG_013332.1:g.41124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-19285A>G ENSP00000319817.3:n.143-19285A>G
ENST00000263275.5:c.*4773A>G MANE Select ENSP00000263275.4:n.*4773A>G
ENST00000263275.4:c.*4773A>G ENSP00000263275.3:n.*4773A>G
ENST00000323060.3:c.143-19285A>G ENSP00000319817.3:n.143-19285A>G
NM_001017989.2:c.143-19285A>G NP_001017989.2:n.143-19285A>G
NM_025136.3:c.*4773A>G NP_079412.1:n.*4773A>G
XM_011527348.1:c.-17-19285A>G XP_011525650.1:n.-17-19285A>G
NM_001017989.3:c.143-19285A>G NP_001017989.2:n.143-19285A>G
NM_025136.4:c.*4773A>G MANE Select NP_079412.1:n.*4773A>G
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