Canonical Allele Identifier: CA10652555

Gene: OPA3

Linked Data

• ClinVar Variation Id: 329563
• ClinVar RCV Id: RCV000281208 ; RCV000375720 ; RCV001778918
• dbSNP Id: rs76825983
• gnomAD v2: 19-46050330-T-C
• gnomAD v3: 19-45547072-T-C
• gnomAD v4: 19-45547072-T-C
• MyVariant Identifiers: chr19:g.46050330T>C (hg19) ; chr19:g.45547072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45547072T>C , CM000681.2:g.45547072T>C	GRCh38
NC_000019.9:g.46050330T>C , CM000681.1:g.46050330T>C	GRCh37
NC_000019.8:g.50742170T>C	NCBI36
NG_013332.1:g.42793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323060.4:c.143-17616A>G	ENSP00000319817.3:n.143-17616A>G
ENST00000263275.5:c.*6442A>G MANE Select	ENSP00000263275.4:n.*6442A>G
ENST00000263275.4:c.*6442A>G	ENSP00000263275.3:n.*6442A>G
ENST00000323060.3:c.143-17616A>G	ENSP00000319817.3:n.143-17616A>G
NM_001017989.2:c.143-17616A>G	NP_001017989.2:n.143-17616A>G
NM_025136.3:c.*6442A>G	NP_079412.1:n.*6442A>G
XM_011527348.1:c.-17-17616A>G	XP_011525650.1:n.-17-17616A>G
NM_001017989.3:c.143-17616A>G	NP_001017989.2:n.143-17616A>G
NM_025136.4:c.*6442A>G MANE Select	NP_079412.1:n.*6442A>G