Canonical Allele Identifier: CA415314652
Gene: OPN1MW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154191700C>A , CM000685.2:g.154191700C>A GRCh38
NC_000023.10:g.153457191C>A , CM000685.1:g.153457191C>A GRCh37
NG_011606.1:g.14107C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000595290.6:c.591C>A MANE Select ENSP00000472316.1:p.His197Gln
ENST00000595290.5:c.591C>A ENSP00000472316.1:p.His197Gln
ENST00000595330.1:n.588+1478C>A
ENST00000596998.2:c.178C>A
NM_000513.2:c.591C>A MANE Select NP_000504.1:p.His197Gln