Canonical Allele Identifier: CA369220376
Gene: OPN1SW HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128415101C>A (hg19) chr7:g.128775047C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775047C>A , CM000669.2:g.128775047C>A GRCh38
NC_000007.13:g.128415101C>A , CM000669.1:g.128415101C>A GRCh37
NC_000007.12:g.128202337C>A NCBI36
NG_009094.1:g.5744G>T
NG_033110.1:g.40756C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.451G>T MANE Select ENSP00000249389.3:p.Val151Phe
ENST00000249389.2:c.460G>T ENSP00000249389.2:p.Val154Phe
NM_001708.2:c.460G>T NP_001699.1:p.Val154Phe
NM_001385125.1:c.451G>T MANE Select NP_001372054.1:p.Val151Phe
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