Canonical Allele Identifier: CA121106
Gene: OPN1MW HGNC NCBI
ClinVar RCV:
RCV000011254
RCV000011257
ClinVar Variation:
10508
dbSNP:
104894914
gnomAD v4:
chrX-154191716-T-C
MyVariant.info:
GRCh38 chrX:g.154191716T>C
GRCh37 chrX:g.153457207T>C
Revel Score:
ENST00000369935 0.631
ENST00000430054 0.438
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'