Canonical Allele Identifier: CA415312706
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154187845T>C , CM000685.2:g.154187845T>C GRCh38
NC_000023.10:g.153453334T>C , CM000685.1:g.153453334T>C GRCh37
NG_011606.1:g.10250T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.188T>C MANE Select ENSP00000472316.1:p.Val63Ala
ENST00000595290.5:c.188T>C ENSP00000472316.1:p.Val63Ala
ENST00000595330.1:n.198T>C
NM_000513.2:c.188T>C MANE Select NP_000504.1:p.Val63Ala