{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA457569840",
  "communityStandardTitle": [
    "NM_001385125.1(OPN1SW):c.357A>T (p.Gly119=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128415195T>A?assembly=hg19",
        "id": "chr7:g.128415195T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1799922",
        "rs": 1799922
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128775141,
          "referenceAllele": "T",
          "start": 128775140
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128775141T>A",
        "CM000669.2:g.128775141T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128415195,
          "referenceAllele": "T",
          "start": 128415194
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128415195T>A",
        "CM000669.1:g.128415195T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 128202431,
          "referenceAllele": "T",
          "start": 128202430
        }
      ],
      "hgvs": [
        "NC_000007.12:g.128202431T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5650,
          "referenceAllele": "A",
          "start": 5649
        }
      ],
      "hgvs": [
        "NG_009094.1:g.5650A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 40850,
          "referenceAllele": "T",
          "start": 40849
        }
      ],
      "hgvs": [
        "NG_033110.1:g.40850T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001012",
      "geneNCBI_id": 611,
      "geneSymbol": "OPN1SW",
      "hgvs": [
        "ENST00000249389.3:c.357A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249389.3:p.Gly119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249389.3:c.357A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001385125.1:c.357A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249389.3:p.Gly119="
          },
          "RefSeq": {
            "hgvs": "NP_001372054.1:p.Gly119="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001012",
      "geneNCBI_id": 611,
      "geneSymbol": "OPN1SW",
      "hgvs": [
        "ENST00000249389.2:c.366A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249389.2:p.Gly122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001012",
      "geneNCBI_id": 611,
      "geneSymbol": "OPN1SW",
      "hgvs": [
        "NM_001708.2:c.366A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001699.1:p.Gly122="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829012581",
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001012",
      "geneNCBI_id": 611,
      "geneSymbol": "OPN1SW",
      "hgvs": [
        "NM_001385125.1:c.357A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372054.1:p.Gly119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723481",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249389.3:c.357A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001385125.1:c.357A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249389.3:p.Gly119="
          },
          "RefSeq": {
            "hgvs": "NP_001372054.1:p.Gly119="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}