Canonical Allele Identifier: CA113831
Gene: OPN1SW HGNC NCBI

Linked Data

ClinVar Variation Id: 64
dbSNP Id: rs104894033

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128773786G>A , CM000669.2:g.128773786G>A GRCh38
NC_000007.13:g.128413840G>A , CM000669.1:g.128413840G>A GRCh37
NC_000007.12:g.128201076G>A NCBI36
NG_009094.1:g.7005C>T
NG_033110.1:g.39495G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.781C>T MANE Select ENSP00000249389.3:p.Pro261Ser
ENST00000249389.2:c.790C>T ENSP00000249389.2:p.Pro264Ser
NM_001708.2:c.790C>T NP_001699.1:p.Pro264Ser
NM_001385125.1:c.781C>T MANE Select NP_001372054.1:p.Pro261Ser