Canonical Allele Identifier: CA255285
Gene: OPN1MW HGNC NCBI

Linked Data

ClinVar Variation Id: 10512
ClinVar RCV Id: RCV000011258
dbSNP Id: rs104894915

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187939C>A , CM000685.2:g.154187939C>A GRCh38
NC_000023.10:g.153453428C>A , CM000685.1:g.153453428C>A GRCh37
NG_011606.1:g.10344C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.282C>A MANE Select ENSP00000472316.1:p.Asn94Lys
ENST00000595290.5:c.282C>A ENSP00000472316.1:p.Asn94Lys
ENST00000595330.1:n.292C>A
NM_000513.2:c.282C>A MANE Select NP_000504.1:p.Asn94Lys