Canonical Allele Identifier: CA415314623
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154191689T>A , CM000685.2:g.154191689T>A GRCh38
NC_000023.10:g.153457180T>A , CM000685.1:g.153457180T>A GRCh37
NG_011606.1:g.14096T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.580T>A MANE Select ENSP00000472316.1:p.Tyr194Asn
ENST00000595290.5:c.580T>A ENSP00000472316.1:p.Tyr194Asn
ENST00000595330.1:n.588+1467T>A
ENST00000596998.2:c.167T>A
NM_000513.2:c.580T>A MANE Select NP_000504.1:p.Tyr194Asn