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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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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
JSON-LD
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'