Canonical Allele Identifier: CA369220364
Gene: OPN1SW HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775043A>G , CM000669.2:g.128775043A>G GRCh38
NC_000007.13:g.128415097A>G , CM000669.1:g.128415097A>G GRCh37
NC_000007.12:g.128202333A>G NCBI36
NG_009094.1:g.5748T>C
NG_033110.1:g.40752A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.455T>C MANE Select ENSP00000249389.3:p.Leu152Pro
ENST00000249389.2:c.464T>C ENSP00000249389.2:p.Leu155Pro
NM_001708.2:c.464T>C NP_001699.1:p.Leu155Pro
NM_001385125.1:c.455T>C MANE Select NP_001372054.1:p.Leu152Pro