Canonical Allele Identifier: CA415312734
Gene: OPN1MW HGNC NCBI

Linked Data

ClinVar Variation Id: 1284388
ClinVar RCV Id: RCV001700841 RCV001726623
dbSNP Id: rs1223726997
gnomAD v2: X-153453340-T-C
gnomAD v3: X-154187851-T-C
gnomAD v4: X-154187851-T-C
MyVariant Identifiers: chrX:g.153453340T>C (hg19) chrX:g.154187851T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187851T>C , CM000685.2:g.154187851T>C GRCh38
NC_000023.10:g.153453340T>C , CM000685.1:g.153453340T>C GRCh37
NG_011606.1:g.10256T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.194T>C MANE Select ENSP00000472316.1:p.Ile65Thr
ENST00000595290.5:c.194T>C ENSP00000472316.1:p.Ile65Thr
ENST00000595330.1:n.204T>C
NM_000513.2:c.194T>C MANE Select NP_000504.1:p.Ile65Thr
Search 100 bp 5'
Search 100 bp 3'