Canonical Allele Identifier: CA121106
Gene: OPN1MW HGNC NCBI

Linked Data

ClinVar Variation Id: 10508
ClinVar RCV Id: RCV000011254 RCV000011257
dbSNP Id: rs104894914
gnomAD v4: X-154191716-T-C
MyVariant Identifiers: chrX:g.153457207T>C (hg19) chrX:g.154191716T>C (hg38)
PubMed: PMID:1302020 PMID:2788922 PMID:8213841 PMID:8666378 PMID:11772996 PMID:15094734 PMID:19421413
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154191716T>C , CM000685.2:g.154191716T>C GRCh38
NC_000023.10:g.153457207T>C , CM000685.1:g.153457207T>C GRCh37
NG_011606.1:g.14123T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.607T>C MANE Select ENSP00000472316.1:p.Cys203Arg
ENST00000595290.5:c.607T>C ENSP00000472316.1:p.Cys203Arg
ENST00000595330.1:n.588+1494T>C
ENST00000596998.2:c.194T>C
NM_000513.2:c.607T>C MANE Select NP_000504.1:p.Cys203Arg
Search 100 bp 5'
Search 100 bp 3'