Canonical Allele Identifier: CA519716370
Gene: OPN1MW HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153453420C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187931C>T , CM000685.2:g.154187931C>T GRCh38
NC_000023.10:g.153453420C>T , CM000685.1:g.153453420C>T GRCh37
NG_011606.1:g.10336C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.274C>T MANE Select ENSP00000472316.1:p.Leu92=
ENST00000595290.5:c.274C>T ENSP00000472316.1:p.Leu92=
ENST00000595330.1:n.284C>T
NM_000513.2:c.274C>T MANE Select NP_000504.1:p.Leu92=