Canonical Allele Identifier: CA415314622
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154191688G>T , CM000685.2:g.154191688G>T GRCh38
NC_000023.10:g.153457179G>T , CM000685.1:g.153457179G>T GRCh37
NG_011606.1:g.14095G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.579G>T MANE Select ENSP00000472316.1:p.Arg193Ser
ENST00000595290.5:c.579G>T ENSP00000472316.1:p.Arg193Ser
ENST00000595330.1:n.588+1466G>T
ENST00000596998.2:c.166G>T
NM_000513.2:c.579G>T MANE Select NP_000504.1:p.Arg193Ser