{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2345350260",
  "communityStandardTitle": [
    "NM_033409.4(SLC52A3):c.62A= (p.Asn21=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199588390",
        "rs": 199588390
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 765713,
          "referenceAllele": "T",
          "start": 765712
        }
      ],
      "hgvs": [
        "NC_000020.11:g.765713T=",
        "CM000682.2:g.765713T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 746357,
          "referenceAllele": "T",
          "start": 746356
        }
      ],
      "hgvs": [
        "NC_000020.10:g.746357T=",
        "CM000682.1:g.746357T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 694357,
          "referenceAllele": "T",
          "start": 694356
        }
      ],
      "hgvs": [
        "NC_000020.9:g.694357T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7872,
          "referenceAllele": "A",
          "start": 7871
        }
      ],
      "hgvs": [
        "NG_027687.1:g.7872A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15273,
          "referenceAllele": "A",
          "start": 15272
        }
      ],
      "hgvs": [
        "NG_027687.2:g.15273A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706132"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "A",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.5:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113,
          "referenceAllele": "A",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.2:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502741.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000488495.3:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494009.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "A",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000645534.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494193.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.62A="
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.62A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Asn21="
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Asn21="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000674666.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502783.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "A",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000675066.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501902.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "A",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000676154.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501807.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775875"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000217254.11:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217254.7:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "A",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.4:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 113,
          "referenceAllele": "A",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.1:n.113A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000632431.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488723.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830111708",
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.3:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.3:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_011529148.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527450.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.4:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "A",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_024451821.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307589.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830111708",
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "A",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.4:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.62A="
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.62A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Asn21="
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Asn21="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828374798",
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "A",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375151",
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.62A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Asn21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}