Canonical Allele Identifier: CA369220375
Gene: OPN1SW HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.128415100A>G (hg19) chr7:g.128775046A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775046A>G , CM000669.2:g.128775046A>G GRCh38
NC_000007.13:g.128415100A>G , CM000669.1:g.128415100A>G GRCh37
NC_000007.12:g.128202336A>G NCBI36
NG_009094.1:g.5745T>C
NG_033110.1:g.40755A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.452T>C MANE Select ENSP00000249389.3:p.Val151Ala
ENST00000249389.2:c.461T>C ENSP00000249389.2:p.Val154Ala
NM_001708.2:c.461T>C NP_001699.1:p.Val154Ala
NM_001385125.1:c.452T>C MANE Select NP_001372054.1:p.Val151Ala
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