{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354620361",
  "communityStandardTitle": [
    "NM_005630.3(SLCO2A1):c.310G>C (p.Gly104Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133692594C>G?assembly=hg19",
        "id": "chr3:g.133692594C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133973750C>G?assembly=hg38",
        "id": "chr3:g.133973750C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 133973750,
          "referenceAllele": "C",
          "start": 133973749
        }
      ],
      "hgvs": [
        "NC_000003.12:g.133973750C>G",
        "CM000665.2:g.133973750C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 133692594,
          "referenceAllele": "C",
          "start": 133692593
        }
      ],
      "hgvs": [
        "NC_000003.11:g.133692594C>G",
        "CM000665.1:g.133692594C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 135175284,
          "referenceAllele": "C",
          "start": 135175283
        }
      ],
      "hgvs": [
        "NC_000003.10:g.135175284C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83435,
          "referenceAllele": "G",
          "start": 83434
        }
      ],
      "hgvs": [
        "NG_031964.2:g.83435G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 83435,
          "referenceAllele": "G",
          "start": 83434
        }
      ],
      "hgvs": [
        "NG_031964.3:g.83435G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706144"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000310926.11:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311291.4:p.Gly104Arg",
        "hgvsWellDefined": "ENSP00000311291.4:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.310G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.310G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Gly104Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Gly104Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000310926.8:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311291.4:p.Gly104Arg",
        "hgvsWellDefined": "ENSP00000311291.4:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000462770.5:n.433G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000464676.5:n.572G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000478651.1:n.433G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000481359.3:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420028.3:p.Gly104Arg",
        "hgvsWellDefined": "ENSP00000420028.3:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000493729.5:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418893.1:p.Gly104Arg",
        "hgvsWellDefined": "ENSP00000418893.1:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573246215",
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.2:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Gly104Arg",
        "hgvsWellDefined": "NP_005621.2:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_011513090.1:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511392.1:p.Gly104Arg",
        "hgvsWellDefined": "XP_011511392.1:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_017007077.1:c.-195G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862566.1:n.-195G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_024453721.1:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309489.1:p.Gly104Arg",
        "hgvsWellDefined": "XP_024309489.1:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573246215",
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.3:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Gly104Arg",
        "hgvsWellDefined": "NP_005621.2:p.Gly104Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.310G>C"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.310G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Gly104Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Gly104Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}