{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115287",
  "communityStandardTitle": [
    "NM_000022.4(ADA):c.643G>A (p.Ala215Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17006[alleleid]",
        "alleleId": 17006,
        "preferredName": "NM_000022.4(ADA):c.643G>A (p.Ala215Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1967",
        "RCV": [
          "RCV000002044",
          "RCV000059112",
          "RCV001280563"
        ],
        "variationId": 1967
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-43251683-C-T",
        "id": "20-43251683-C-T",
        "variant": "20:43251683 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.43251683C>T?assembly=hg19",
        "id": "chr20:g.43251683C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.44623042C>T?assembly=hg38",
        "id": "chr20:g.44623042C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114025668",
        "rs": 114025668
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-43251683-C-T?dataset=gnomad_r2_1",
        "id": "20-43251683-C-T",
        "variant": "20:43251683 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44623042-C-T?dataset=gnomad_r3",
        "id": "20-44623042-C-T",
        "variant": "20:44623042 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44623042-C-T?dataset=gnomad_r4",
        "id": "20-44623042-C-T",
        "variant": "20:44623042 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 44623042,
          "referenceAllele": "C",
          "start": 44623041
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44623042C>T",
        "CM000682.2:g.44623042C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 43251683,
          "referenceAllele": "C",
          "start": 43251682
        }
      ],
      "hgvs": [
        "NC_000020.10:g.43251683C>T",
        "CM000682.1:g.43251683C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 42685097,
          "referenceAllele": "C",
          "start": 42685096
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42685097C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33694,
          "referenceAllele": "G",
          "start": 33693
        }
      ],
      "hgvs": [
        "NG_007385.1:g.33694G>A",
        "LRG_16:g.33694G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000559"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.6:n.734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 929,
          "referenceAllele": "G",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.2:c.490G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512234.1:p.Ala164Thr",
        "hgvsWellDefined": "ENSP00000512234.1:p.Ala164Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.6:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000440946.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.2:c.607-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:n.607-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.6:c.*27G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.*27G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695889.1:c.219-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512240.1:n.219-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2446,
          "referenceAllele": "G",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695890.1:n.2446G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695891.1:c.219-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512241.1:n.219-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695927.1:c.721G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512270.1:p.Ala241Thr",
        "hgvsWellDefined": "ENSP00000512270.1:p.Ala241Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695949.1:c.604-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512281.1:n.604-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695957.1:c.*134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512286.1:n.*134G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695991.1:c.217-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512314.1:n.217-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695992.1:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512315.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000512315.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695993.1:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512316.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000512316.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695994.1:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512317.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000512317.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695995.1:c.253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512318.1:p.Ala85Thr",
        "hgvsWellDefined": "ENSP00000512318.1:p.Ala85Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695996.1:n.714G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696003.1:n.735G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696004.1:n.735G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 128,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696005.1:c.129-112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 717,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696006.1:c.607-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512325.1:n.607-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696007.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512326.1:n.494G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2921,
          "referenceAllele": "G",
          "start": 2920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696008.1:n.2921G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696017.1:c.640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512333.1:p.Ala214Thr",
        "hgvsWellDefined": "ENSP00000512333.1:p.Ala214Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696034.1:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512343.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000512343.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696035.1:n.753G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696036.1:n.1333G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2320,
          "referenceAllele": "G",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696037.1:n.2320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696038.1:c.*389G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512344.1:n.*389G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696039.1:n.931G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 719,
          "referenceAllele": "G",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696058.1:c.640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512361.1:p.Ala214Thr",
        "hgvsWellDefined": "ENSP00000512361.1:p.Ala214Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696059.1:c.*588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512362.1:n.*588G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 839,
          "referenceAllele": "G",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696060.1:c.712G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512363.1:p.Ala238Thr",
        "hgvsWellDefined": "ENSP00000512363.1:p.Ala238Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696061.1:c.640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512364.1:p.Ala214Thr",
        "hgvsWellDefined": "ENSP00000512364.1:p.Ala214Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696062.1:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512365.1:p.Ala236Thr",
        "hgvsWellDefined": "ENSP00000512365.1:p.Ala236Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696063.1:c.718G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512366.1:p.Ala240Thr",
        "hgvsWellDefined": "ENSP00000512366.1:p.Ala240Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696064.1:c.490G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512367.1:p.Ala164Thr",
        "hgvsWellDefined": "ENSP00000512367.1:p.Ala164Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696065.1:c.66-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512368.1:n.66-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696073.1:n.878G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696074.1:n.259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696075.1:c.*613G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512374.1:n.*613G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696076.1:c.712G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512375.1:p.Ala238Thr",
        "hgvsWellDefined": "ENSP00000512375.1:p.Ala238Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696077.1:c.637G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512376.1:p.Ala213Thr",
        "hgvsWellDefined": "ENSP00000512376.1:p.Ala213Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696078.1:c.640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512377.1:p.Ala214Thr",
        "hgvsWellDefined": "ENSP00000512377.1:p.Ala214Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696079.1:c.640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512378.1:p.Ala214Thr",
        "hgvsWellDefined": "ENSP00000512378.1:p.Ala214Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
          "referenceAllele": "G",
          "start": 752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696080.1:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512379.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000512379.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696081.1:n.762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 749,
          "referenceAllele": "G",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696082.1:c.718G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512380.1:p.Ala240Thr",
        "hgvsWellDefined": "ENSP00000512380.1:p.Ala240Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696083.1:n.1524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696084.1:n.744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696104.1:c.363-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512399.1:n.363-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696105.1:c.*184G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512400.1:n.*184G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.9:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000361965.4:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.643G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.643G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Ala215Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Ala215Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.8:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000361965.4:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 890,
          "referenceAllele": "C",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009019",
      "geneNCBI_id": 11142,
      "geneSymbol": "PKIG",
      "hgvs": [
        "ENST00000372887.5:c.152-891C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361978.1:n.152-891C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000464097.5:n.317G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.5:n.727G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.5:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Ala215Thr",
        "hgvsWellDefined": "ENSP00000440946.1:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.1:c.607-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:n.607-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.5:c.*27G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.*27G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091205",
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.2:c.643G>A",
        "LRG_16t1:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Ala215Thr",
        "hgvsWellDefined": "NP_000013.2:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_005260236.2:c.607-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260293.1:n.607-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528478.1:c.238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526780.1:p.Ala80Thr",
        "hgvsWellDefined": "XP_011526780.1:p.Ala80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528479.1:c.238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526781.1:p.Ala80Thr",
        "hgvsWellDefined": "XP_011526781.1:p.Ala80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 697,
          "referenceAllele": "G",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XR_244129.1:n.697G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091205",
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.3:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Ala215Thr",
        "hgvsWellDefined": "NP_000013.2:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026476",
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.1:c.238G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:p.Ala80Thr",
        "hgvsWellDefined": "NP_001308979.1:p.Ala80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.1:c.607-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:n.607-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 794,
          "referenceAllele": "G",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.1:n.794G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091205",
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.4:c.643G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Ala215Thr",
        "hgvsWellDefined": "NP_000013.2:p.Ala215Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.643G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.643G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Ala215Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Ala215Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026476",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.2:c.238G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:p.Ala80Thr",
        "hgvsWellDefined": "NP_001308979.1:p.Ala80Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "endIntronDirection": "-",
          "endIntronOffset": 111,
          "referenceAllele": "G",
          "start": 698,
          "startIntronDirection": "-",
          "startIntronOffset": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.2:c.607-112G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:n.607-112G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.2:n.735G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730959"
    }
  ],
  "type": "nucleotide"
}