Canonical Allele Identifier: CA415313282
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187952G>C , CM000685.2:g.154187952G>C GRCh38
NC_000023.10:g.153453441G>C , CM000685.1:g.153453441G>C GRCh37
NG_011606.1:g.10357G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.295G>C MANE Select ENSP00000472316.1:p.Asp99His
ENST00000595290.5:c.295G>C ENSP00000472316.1:p.Asp99His
ENST00000595330.1:n.305G>C
NM_000513.2:c.295G>C MANE Select NP_000504.1:p.Asp99His