{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2044019947",
  "communityStandardTitle": [
    "NM_018656.5(SLC35E3):c.182G= (p.Cys61=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61743810",
        "rs": 61743810
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1878575885",
        "rs": 1878575885
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 68746559,
          "referenceAllele": "G",
          "start": 68746558
        }
      ],
      "hgvs": [
        "NC_000012.12:g.68746559G=",
        "CM000674.2:g.68746559G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 69140339,
          "referenceAllele": "G",
          "start": 69140338
        }
      ],
      "hgvs": [
        "NC_000012.11:g.69140339G=",
        "CM000674.1:g.69140339G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 67426606,
          "referenceAllele": "G",
          "start": 67426605
        }
      ],
      "hgvs": [
        "NC_000012.10:g.67426606G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 64609,
          "referenceAllele": "G",
          "start": 64608
        }
      ],
      "hgvs": [
        "NG_046600.2:g.64609G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "ENST00000319429.7:n.425G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS746293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "ENST00000398004.4:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381089.2:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753714",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398004.4:c.182G="
          },
          "RefSeq": {
            "hgvs": "NM_018656.5:c.182G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381089.2:p.Cys61="
          },
          "RefSeq": {
            "hgvs": "NP_061126.2:p.Cys61="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "ENST00000673712.1:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501065.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773809"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "ENST00000674096.1:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501130.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "ENST00000398004.3:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381089.2:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079279381",
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_018656.2:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061126.2:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "XM_005269006.2:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269063.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_001354997.1:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341926.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_001354998.1:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341927.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079279381",
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_018656.3:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061126.2:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NR_149143.1:n.474G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NR_149144.1:n.474G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_001354997.3:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341926.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_001354998.2:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341927.1:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079279381",
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NM_018656.5:c.182G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061126.2:p.Cys61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000398004.4:c.182G="
          },
          "RefSeq": {
            "hgvs": "NM_018656.5:c.182G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381089.2:p.Cys61="
          },
          "RefSeq": {
            "hgvs": "NP_061126.2:p.Cys61="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NR_149143.3:n.384G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020864",
      "geneNCBI_id": 55508,
      "geneSymbol": "SLC35E3",
      "hgvs": [
        "NR_149144.3:n.384G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704917"
    }
  ],
  "type": "nucleotide"
}