Canonical Allele Identifier: CA369220926
Gene: OPN1SW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775145G>C , CM000669.2:g.128775145G>C GRCh38
NC_000007.13:g.128415199G>C , CM000669.1:g.128415199G>C GRCh37
NC_000007.12:g.128202435G>C NCBI36
NG_009094.1:g.5646C>G
NG_033110.1:g.40854G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.353C>G MANE Select ENSP00000249389.3:p.Thr118Arg
ENST00000249389.2:c.362C>G ENSP00000249389.2:p.Thr121Arg
NM_001708.2:c.362C>G NP_001699.1:p.Thr121Arg
NM_001385125.1:c.353C>G MANE Select NP_001372054.1:p.Thr118Arg