Canonical Allele Identifier: CA292640

Gene: OPA3

Linked Data

• ClinVar Variation Id: 138572
• ClinVar RCV Id: RCV000127287 ; RCV000351016 ; RCV000399979 ; RCV002483254
• dbSNP Id: rs45527139
• ExAC: 19:46088060 T / C
• gnomAD v2: 19-46088060-T-C
• gnomAD v3: 19-45584802-T-C
• gnomAD v4: 19-45584802-T-C
• MyVariant Identifiers: chr19:g.46088060T>C (hg19) ; chr19:g.45584802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45584802T>C , CM000681.2:g.45584802T>C	GRCh38
NC_000019.9:g.46088060T>C , CM000681.1:g.46088060T>C	GRCh37
NC_000019.8:g.50779900T>C	NCBI36
NG_013332.1:g.5063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.-38A>G	ENSP00000319817.3:n.-38A>G
ENST00000263275.5:c.-38A>G MANE Select	ENSP00000263275.4:n.-38A>G
ENST00000263275.4:c.-38A>G	ENSP00000263275.3:n.-38A>G
ENST00000323060.3:c.-38A>G	ENSP00000319817.3:n.-38A>G
ENST00000544371.1:c.-18+17293A>G	ENSP00000442839.1:n.-18+17293A>G
NM_001017989.2:c.-38A>G	NP_001017989.2:n.-38A>G
NM_025136.3:c.-38A>G	NP_079412.1:n.-38A>G
NM_001017989.3:c.-38A>G	NP_001017989.2:n.-38A>G
NM_025136.4:c.-38A>G MANE Select	NP_079412.1:n.-38A>G