{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1081631876",
  "communityStandardTitle": [
    "NM_003059.3(SLC22A4):c.652+3068A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11950562",
        "rs": 11950562
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132316836-A-T?dataset=gnomad_r3",
        "id": "5-132316836-A-T",
        "variant": "5:132316836 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132316836-A-T?dataset=gnomad_r4",
        "id": "5-132316836-A-T",
        "variant": "5:132316836 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 132316836,
          "referenceAllele": "A",
          "start": 132316835
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132316836A>T",
        "CM000667.2:g.132316836A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131652529,
          "referenceAllele": "A",
          "start": 131652528
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131652529A>T",
        "CM000667.1:g.131652529A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131680428,
          "referenceAllele": "A",
          "start": 131680427
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131680428A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27385,
          "referenceAllele": "A",
          "start": 27384
        }
      ],
      "hgvs": [
        "NG_012129.1:g.27385A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27385,
          "referenceAllele": "A",
          "start": 27384
        }
      ],
      "hgvs": [
        "NG_012129.2:g.27385A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673583"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 875,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000200652.4:c.652+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200652.3:n.652+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200652.4:c.652+3068A>T"
          },
          "RefSeq": {
            "hgvs": "NM_003059.3:c.652+3068A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200652.3:n.652+3068A>T"
          },
          "RefSeq": {
            "hgvs": "NP_003050.2:n.652+3068A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 826,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000200652.3:c.652+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200652.3:n.652+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "ENST00000491257.1:n.456+3068A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 817,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "NM_003059.2:c.652+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003050.2:n.652+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028338"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 4582,
          "referenceAllele": "T",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040538",
      "geneNCBI_id": 553103,
      "geneSymbol": "MIR3936HG",
      "hgvs": [
        "NR_110997.1:n.825-4583T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 238,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 238,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_006714675.2:c.124+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714738.1:n.124+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_011543589.1:c.548+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541891.1:n.548+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 223,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_006714675.4:c.124+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714738.1:n.124+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_011543589.2:c.548+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541891.1:n.548+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 865,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "XM_017009776.1:c.124+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865265.1:n.124+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 875,
          "endIntronDirection": "+",
          "endIntronOffset": 3068,
          "referenceAllele": "A",
          "start": 875,
          "startIntronDirection": "+",
          "startIntronOffset": 3067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010968",
      "geneNCBI_id": 6583,
      "geneSymbol": "SLC22A4",
      "hgvs": [
        "NM_003059.3:c.652+3068A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003050.2:n.652+3068A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200652.4:c.652+3068A>T"
          },
          "RefSeq": {
            "hgvs": "NM_003059.3:c.652+3068A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200652.3:n.652+3068A>T"
          },
          "RefSeq": {
            "hgvs": "NP_003050.2:n.652+3068A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}