Canonical Allele Identifier: CA10558953
Gene: OPN1MW HGNC NCBI

Linked Data

dbSNP Id: rs782562021
ExAC: X:153453446 G / A
gnomAD v2: X-153453446-G-A
gnomAD v3: X-154187957-G-A
gnomAD v4: X-154187957-G-A
MyVariant Identifiers: chrX:g.153453446G>A (hg19) chrX:g.154187957G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187957G>A , CM000685.2:g.154187957G>A GRCh38
NC_000023.10:g.153453446G>A , CM000685.1:g.153453446G>A GRCh37
NG_011606.1:g.10362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.300G>A MANE Select ENSP00000472316.1:p.Leu100=
ENST00000595290.5:c.300G>A ENSP00000472316.1:p.Leu100=
ENST00000595330.1:n.310G>A
NM_000513.2:c.300G>A MANE Select NP_000504.1:p.Leu100=
Search 100 bp 5'
Search 100 bp 3'