Canonical Allele Identifier: CA16041985
Gene: OPA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370448
ClinVar RCV Id: RCV000410015
dbSNP Id: rs1057516497
MyVariant Identifiers: chr19:g.46056773T>C (hg19) chr19:g.45553515T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45553515T>C , CM000681.2:g.45553515T>C GRCh38
NC_000019.9:g.46056773T>C , CM000681.1:g.46056773T>C GRCh37
NC_000019.8:g.50748613T>C NCBI36
NG_013332.1:g.36350A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000323060.4:c.143-24059A>G ENSP00000319817.3:n.143-24059A>G
ENST00000263275.5:c.539A>G MANE Select ENSP00000263275.4:p.Ter180Trp
ENST00000263275.4:c.539A>G ENSP00000263275.3:p.Ter180Trp
ENST00000323060.3:c.143-24059A>G ENSP00000319817.3:n.143-24059A>G
ENST00000544371.1:c.380A>G ENSP00000442839.1:p.Ter127Trp
NM_001017989.2:c.143-24059A>G NP_001017989.2:n.143-24059A>G
NM_025136.3:c.539A>G NP_079412.1:p.Ter180Trp
XM_005259278.2:c.380A>G XP_005259335.1:p.Ter127Trp
XM_006723403.2:c.380A>G XP_006723466.1:p.Ter127Trp
XM_011527348.1:c.-17-24059A>G XP_011525650.1:n.-17-24059A>G
XM_006723403.4:c.380A>G XP_006723466.1:p.Ter127Trp
NM_001017989.3:c.143-24059A>G NP_001017989.2:n.143-24059A>G
NM_025136.4:c.539A>G MANE Select NP_079412.1:p.Ter180Trp
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