Canonical Allele Identifier: CA113829
Gene: OPN1SW HGNC NCBI

Linked Data

ClinVar Variation Id: 62
dbSNP Id: rs104894031

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775556C>T , CM000669.2:g.128775556C>T GRCh38
NC_000007.13:g.128415610C>T , CM000669.1:g.128415610C>T GRCh37
NC_000007.12:g.128202846C>T NCBI36
NG_009094.1:g.5235G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.226G>A MANE Select ENSP00000249389.3:p.Gly76Arg
ENST00000249389.2:c.235G>A ENSP00000249389.2:p.Gly79Arg
NM_001708.2:c.235G>A NP_001699.1:p.Gly79Arg
NM_001385125.1:c.226G>A MANE Select NP_001372054.1:p.Gly76Arg