{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1583125029",
  "communityStandardTitle": [
    "NM_003059.3(SLC22A4):c.1507C= (p.Leu503=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1050152",
        "rs": 1050152
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 132340627,
          "referenceAllele": "C",
          "start": 132340626
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132340627C=",
        "CM000667.2:g.132340627C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 131676320,
          "referenceAllele": "C",
          "start": 131676319
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131676320C=",
        "CM000667.1:g.131676320C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 131704219,
          "referenceAllele": "C",
          "start": 131704218
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131704219C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51176,
          "referenceAllele": "C",
          "start": 51175
        }
      ],
      "hgvs": [
        "NG_012129.1:g.51176C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 51176,
          "referenceAllele": "C",
          "start": 51175
        }
      ],
      "hgvs": [
        "NG_012129.2:g.51176C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673583"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000200652.4:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200652.3:p.Leu503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200652.4:c.1507C="
          },
          "RefSeq": {
            "hgvs": "NM_003059.3:c.1507C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200652.3:p.Leu503="
          },
          "RefSeq": {
            "hgvs": "NP_003050.2:p.Leu503="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000200652.3:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200652.3:p.Leu503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070931170",
      "coordinates": [
        {
          "allele": "C",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "NM_003059.2:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003050.2:p.Leu503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 5700,
          "referenceAllele": "G",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 5701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040538",
      "geneNCBI_id": 553103,
      "geneSymbol": "MIR3936HG",
      "hgvs": [
        "NR_110997.1:n.561-5701G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_006714675.2:c.979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714738.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_011543589.1:c.1231C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541891.1:p.Leu411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_006714675.4:c.979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714738.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_011543589.2:c.1231C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541891.1:p.Leu411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555293"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1720,
          "referenceAllele": "C",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_017009776.1:c.979C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865265.1:p.Leu327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070931170",
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "NM_003059.3:c.1507C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003050.2:p.Leu503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200652.4:c.1507C="
          },
          "RefSeq": {
            "hgvs": "NM_003059.3:c.1507C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200652.3:p.Leu503="
          },
          "RefSeq": {
            "hgvs": "NP_003050.2:p.Leu503="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}