Canonical Allele Identifier: CA415313688
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154188012T>C , CM000685.2:g.154188012T>C GRCh38
NC_000023.10:g.153453501T>C , CM000685.1:g.153453501T>C GRCh37
NG_011606.1:g.10417T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.355T>C MANE Select ENSP00000472316.1:p.Phe119Leu
ENST00000595290.5:c.355T>C ENSP00000472316.1:p.Phe119Leu
ENST00000595330.1:n.365T>C
NM_000513.2:c.355T>C MANE Select NP_000504.1:p.Phe119Leu