{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12216371",
  "communityStandardTitle": [
    "NM_021977.4(SLC22A3):c.*564G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.160872652G>A?assembly=hg19",
        "id": "chr6:g.160872652G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.160451620G>A?assembly=hg38",
        "id": "chr6:g.160451620G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3088442",
        "rs": 3088442
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160872652-G-A?dataset=gnomad_r2_1",
        "id": "6-160872652-G-A",
        "variant": "6:160872652 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160451620-G-A?dataset=gnomad_r3",
        "id": "6-160451620-G-A",
        "variant": "6:160451620 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-160451620-G-A?dataset=gnomad_r4",
        "id": "6-160451620-G-A",
        "variant": "6:160451620 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160451620,
          "referenceAllele": "G",
          "start": 160451619
        }
      ],
      "hgvs": [
        "NC_000006.12:g.160451620G>A",
        "CM000668.2:g.160451620G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160872652,
          "referenceAllele": "G",
          "start": 160872651
        }
      ],
      "hgvs": [
        "NC_000006.11:g.160872652G>A",
        "CM000668.1:g.160872652G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160792642,
          "referenceAllele": "G",
          "start": 160792641
        }
      ],
      "hgvs": [
        "NC_000006.10:g.160792642G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "ENST00000275300.3:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275300.2:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275300.3:c.*564G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021977.4:c.*564G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275300.2:n.*564G>A"
          },
          "RefSeq": {
            "hgvs": "NP_068812.1:n.*564G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2387,
          "referenceAllele": "G",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "ENST00000275300.2:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275300.2:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252615"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2282,
          "referenceAllele": "G",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "NM_021977.3:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068812.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_005267106.3:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267163.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "G",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536075.1:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534377.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1902,
          "referenceAllele": "G",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536076.1:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534378.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "G",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536077.1:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534379.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_005267106.5:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267163.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8690,
          "referenceAllele": "G",
          "start": 8689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536075.2:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534377.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "G",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_011536076.3:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534378.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3283,
          "referenceAllele": "G",
          "start": 3282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XM_017011203.2:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866692.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2179,
          "referenceAllele": "G",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XR_001743588.1:n.2179G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "referenceAllele": "G",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "XR_001743589.1:n.1964G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010967",
      "geneNCBI_id": 6581,
      "geneSymbol": "SLC22A3",
      "hgvs": [
        "NM_021977.4:c.*564G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068812.1:n.*564G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670340",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275300.3:c.*564G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021977.4:c.*564G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275300.2:n.*564G>A"
          },
          "RefSeq": {
            "hgvs": "NP_068812.1:n.*564G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}