{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2345348111",
  "communityStandardTitle": [
    "NM_033409.4(SLC52A3):c.1293G= (p.Trp431=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499531",
        "rs": 1060499531
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 761143,
          "referenceAllele": "C",
          "start": 761142
        }
      ],
      "hgvs": [
        "NC_000020.11:g.761143C=",
        "CM000682.2:g.761143C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 741787,
          "referenceAllele": "C",
          "start": 741786
        }
      ],
      "hgvs": [
        "NC_000020.10:g.741787C=",
        "CM000682.1:g.741787C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "C",
          "end": 689787,
          "referenceAllele": "C",
          "start": 689786
        }
      ],
      "hgvs": [
        "NC_000020.9:g.689787C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12442,
          "referenceAllele": "G",
          "start": 12441
        }
      ],
      "hgvs": [
        "NG_027687.1:g.12442G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19843,
          "referenceAllele": "G",
          "start": 19842
        }
      ],
      "hgvs": [
        "NG_027687.2:g.19843G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706132"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.5:c.*507G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:n.*507G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.2:c.787G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502741.1:p.Val263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2057,
          "referenceAllele": "G",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000488495.3:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494009.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1548,
          "referenceAllele": "G",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000645534.1:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494193.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.1293G="
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.1293G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Trp431="
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Trp431="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000217254.11:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000217254.7:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000381944.4:c.*507G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371370.3:n.*507G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000473664.1:n.838G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "ENST00000632431.1:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488723.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087951833",
      "coordinates": [
        {
          "allele": "G",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.3:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.3:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_011529148.1:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527450.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.4:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_024451821.1:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307589.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087951833",
      "coordinates": [
        {
          "allele": "G",
          "end": 1548,
          "referenceAllele": "G",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.4:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.1293G="
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.1293G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Trp431="
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Trp431="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1561,
          "referenceAllele": "G",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2070,
          "referenceAllele": "G",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.1293G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Trp431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}