Canonical Allele Identifier: CA10652553
Gene: OPA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 329554
ClinVar RCV Id: RCV000336433 RCV000408262 RCV001786366
dbSNP Id: rs112948303
gnomAD v2: 19-46049757-C-T
gnomAD v3: 19-45546499-C-T
gnomAD v4: 19-45546499-C-T
MyVariant Identifiers: chr19:g.46049757C>T (hg19) chr19:g.46049757_46049760delinsTTTT (hg19) chr19:g.45546499C>T (hg38) chr19:g.45546499_45546502delinsTTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45546499C>T , CM000681.2:g.45546499C>T GRCh38
NC_000019.9:g.46049757C>T , CM000681.1:g.46049757C>T GRCh37
NC_000019.8:g.50741597C>T NCBI36
NG_013332.1:g.43366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-17043G>A ENSP00000319817.3:n.143-17043G>A
ENST00000263275.5:c.*7015G>A MANE Select ENSP00000263275.4:n.*7015G>A
ENST00000263275.4:c.*7015G>A ENSP00000263275.3:n.*7015G>A
ENST00000323060.3:c.143-17043G>A ENSP00000319817.3:n.143-17043G>A
NM_001017989.2:c.143-17043G>A NP_001017989.2:n.143-17043G>A
NM_025136.3:c.*7015G>A NP_079412.1:n.*7015G>A
XM_011527348.1:c.-17-17043G>A XP_011525650.1:n.-17-17043G>A
NM_001017989.3:c.143-17043G>A NP_001017989.2:n.143-17043G>A
NM_025136.4:c.*7015G>A MANE Select NP_079412.1:n.*7015G>A
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