Canonical Allele Identifier: CA457569858
Gene: OPN1SW HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128415201A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775147A>T , CM000669.2:g.128775147A>T GRCh38
NC_000007.13:g.128415201A>T , CM000669.1:g.128415201A>T GRCh37
NC_000007.12:g.128202437A>T NCBI36
NG_009094.1:g.5644T>A
NG_033110.1:g.40856A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.351T>A MANE Select ENSP00000249389.3:p.Val117=
ENST00000249389.2:c.360T>A ENSP00000249389.2:p.Val120=
NM_001708.2:c.360T>A NP_001699.1:p.Val120=
NM_001385125.1:c.351T>A MANE Select NP_001372054.1:p.Val117=