Canonical Allele Identifier: CA2824290647
Gene: OPN1MW HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154191564A>C , CM000685.2:g.154191564A>C GRCh38
NC_000023.10:g.153457055A>C , CM000685.1:g.153457055A>C GRCh37
NG_011606.1:g.13971A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000595290.6:c.579-124A>C MANE Select ENSP00000472316.1:n.579-124A>C
ENST00000595290.5:c.579-124A>C ENSP00000472316.1:n.579-124A>C
ENST00000595330.1:n.588+1342A>C
ENST00000596998.2:c.166-124A>C
NM_000513.2:c.579-124A>C MANE Select NP_000504.1:n.579-124A>C