Canonical Allele Identifier: CA10654591

Gene: OPA3

Linked Data

• ClinVar Variation Id: 369267
• ClinVar RCV Id: RCV000291467 ; RCV000348691
• dbSNP Id: rs192699227
• gnomAD v2: 19-46049526-C-T
• gnomAD v3: 19-45546268-C-T
• gnomAD v4: 19-45546268-C-T
• MyVariant Identifiers: chr19:g.46049526C>T (hg19) ; chr19:g.45546268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45546268C>T , CM000681.2:g.45546268C>T	GRCh38
NC_000019.9:g.46049526C>T , CM000681.1:g.46049526C>T	GRCh37
NC_000019.8:g.50741366C>T	NCBI36
NG_013332.1:g.43597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.143-16812G>A	ENSP00000319817.3:n.143-16812G>A
ENST00000323060.3:c.143-16812G>A	ENSP00000319817.3:n.143-16812G>A
NM_001017989.2:c.143-16812G>A	NP_001017989.2:n.143-16812G>A
XM_011527348.1:c.-17-16812G>A	XP_011525650.1:n.-17-16812G>A
NM_001017989.3:c.143-16812G>A	NP_001017989.2:n.143-16812G>A