ClinGen Allele Registry
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Canonical Allele Identifier:
CA319836
Gene: OPA3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214929
ClinVar RCV Id:
RCV000990232
RCV000900236
RCV001424271
dbSNP Id:
rs140959406
ExAC:
19:46032673 C / T
gnomAD v2:
19-46032673-C-T
gnomAD v3:
19-45529415-C-T
gnomAD v4:
19-45529415-C-T
MyVariant Identifiers:
chr19:g.46032673C>T (hg19)
chr19:g.45529415C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.45529415C>T , CM000681.2:g.45529415C>T
GRCh38
NC_000019.9:g.46032673C>T , CM000681.1:g.46032673C>T
GRCh37
NC_000019.8:g.50724513C>T
NCBI36
NG_013332.1:g.60450G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000323060.4:c.184G>A
ENSP00000319817.3:p.Gly62Ser
ENST00000323060.3:c.184G>A
ENSP00000319817.3:p.Gly62Ser
NM_001017989.2:c.184G>A
NP_001017989.2:p.Gly62Ser
XM_011527348.1:c.25G>A
XP_011525650.1:p.Gly9Ser
NM_001017989.3:c.184G>A
NP_001017989.2:p.Gly62Ser
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