{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616871",
  "communityStandardTitle": [
    "NM_001025.5(RPS23):c.358T>A (p.Phe120Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404665[alleleid]",
        "alleleId": 404665,
        "preferredName": "NM_001025.5(RPS23):c.358T>A (p.Phe120Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/417764",
        "RCV": [
          "RCV000477697"
        ],
        "variationId": 417764
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.81572002A>T?assembly=hg19",
        "id": "chr5:g.81572002A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.82276183A>T?assembly=hg38",
        "id": "chr5:g.82276183A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060505035",
        "rs": 1060505035
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 82276183,
          "referenceAllele": "A",
          "start": 82276182
        }
      ],
      "hgvs": [
        "NC_000005.10:g.82276183A>T",
        "CM000667.2:g.82276183A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 81572002,
          "referenceAllele": "A",
          "start": 81572001
        }
      ],
      "hgvs": [
        "NC_000005.9:g.81572002A>T",
        "CM000667.1:g.81572002A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 81607758,
          "referenceAllele": "A",
          "start": 81607757
        }
      ],
      "hgvs": [
        "NC_000005.8:g.81607758A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "T",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000296674.13:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296674.8:p.Phe120Ile",
        "hgvsWellDefined": "ENSP00000296674.8:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296674.13:c.358T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001025.5:c.358T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296674.8:p.Phe120Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001016.1:p.Phe120Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "referenceAllele": "T",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000651545.1:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498621.1:p.Phe120Ile",
        "hgvsWellDefined": "ENSP00000498621.1:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "T",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000296674.12:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296674.8:p.Phe120Ile",
        "hgvsWellDefined": "ENSP00000296674.8:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "T",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000503605.1:n.567T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "T",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000504293.5:n.453T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000507980.1:c.*128T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422071.1:n.*128T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "A",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020315",
      "geneNCBI_id": 83734,
      "geneSymbol": "ATG10",
      "hgvs": [
        "ENST00000508814.5:n.299A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 305,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000510019.5:c.233-49T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425833.1:n.233-49T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "T",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000510210.5:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427043.1:p.Phe120Ile",
        "hgvsWellDefined": "ENSP00000427043.1:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "ENST00000512493.5:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425865.1:p.Phe120Ile",
        "hgvsWellDefined": "ENSP00000425865.1:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "A",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020315",
      "geneNCBI_id": 83734,
      "geneSymbol": "ATG10",
      "hgvs": [
        "ENST00000514253.2:n.230A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645497484",
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "NM_001025.4:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001016.1:p.Phe120Ile",
        "hgvsWellDefined": "NP_001016.1:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008822"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645497484",
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "T",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010410",
      "geneNCBI_id": 6228,
      "geneSymbol": "RPS23",
      "hgvs": [
        "NM_001025.5:c.358T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001016.1:p.Phe120Ile",
        "hgvsWellDefined": "NP_001016.1:p.Phe120Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662999",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296674.13:c.358T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001025.5:c.358T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296674.8:p.Phe120Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001016.1:p.Phe120Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}