Canonical Allele Identifier: CA10558962
Gene: OPN1MW HGNC NCBI

Linked Data

dbSNP Id: rs781930192
ExAC: X:153453530 G / A
gnomAD v4: X-154188041-G-A
MyVariant Identifiers: chrX:g.153453530G>A (hg19) chrX:g.154188041G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154188041G>A , CM000685.2:g.154188041G>A GRCh38
NC_000023.10:g.153453530G>A , CM000685.1:g.153453530G>A GRCh37
NG_011606.1:g.10446G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.384G>A MANE Select ENSP00000472316.1:p.Leu128=
ENST00000595290.5:c.384G>A ENSP00000472316.1:p.Leu128=
ENST00000595330.1:n.394G>A
NM_000513.2:c.384G>A MANE Select NP_000504.1:p.Leu128=
Search 100 bp 5'
Search 100 bp 3'