Canonical Allele Identifier: CA457569866
Gene: OPN1SW HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128415204C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775150C>T , CM000669.2:g.128775150C>T GRCh38
NC_000007.13:g.128415204C>T , CM000669.1:g.128415204C>T GRCh37
NC_000007.12:g.128202440C>T NCBI36
NG_009094.1:g.5641G>A
NG_033110.1:g.40859C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.348G>A MANE Select ENSP00000249389.3:p.Leu116=
ENST00000249389.2:c.357G>A ENSP00000249389.2:p.Leu119=
NM_001708.2:c.357G>A NP_001699.1:p.Leu119=
NM_001385125.1:c.348G>A MANE Select NP_001372054.1:p.Leu116=
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