Canonical Allele Identifier: CA415312165
Gene: OPN1MW HGNC NCBI

Linked Data

dbSNP Id: rs2067108285

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187773C>T , CM000685.2:g.154187773C>T GRCh38
NC_000023.10:g.153453262C>T , CM000685.1:g.153453262C>T GRCh37
NG_011606.1:g.10178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.116C>T MANE Select ENSP00000472316.1:p.Pro39Leu
ENST00000595290.5:c.116C>T ENSP00000472316.1:p.Pro39Leu
ENST00000595330.1:n.126C>T
NM_000513.2:c.116C>T MANE Select NP_000504.1:p.Pro39Leu