Canonical Allele Identifier: CA319836

Gene: OPA3

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)

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