Canonical Allele Identifier: CA415312807
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187874C>A , CM000685.2:g.154187874C>A GRCh38
NC_000023.10:g.153453363C>A , CM000685.1:g.153453363C>A GRCh37
NG_011606.1:g.10279C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.217C>A MANE Select ENSP00000472316.1:p.Leu73Ile
ENST00000595290.5:c.217C>A ENSP00000472316.1:p.Leu73Ile
ENST00000595330.1:n.227C>A
NM_000513.2:c.217C>A MANE Select NP_000504.1:p.Leu73Ile