Canonical Allele Identifier: CA415313303
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187956T>A , CM000685.2:g.154187956T>A GRCh38
NC_000023.10:g.153453445T>A , CM000685.1:g.153453445T>A GRCh37
NG_011606.1:g.10361T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.299T>A MANE Select ENSP00000472316.1:p.Leu100Gln
ENST00000595290.5:c.299T>A ENSP00000472316.1:p.Leu100Gln
ENST00000595330.1:n.309T>A
NM_000513.2:c.299T>A MANE Select NP_000504.1:p.Leu100Gln