Canonical Allele Identifier: CA457569857
Gene: OPN1SW HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128415201A>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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