{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409122590",
  "communityStandardTitle": [
    "NM_000022.4(ADA):c.22G>T (p.Asp8Tyr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.43280227C>A?assembly=hg19",
        "id": "chr20:g.43280227C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.44651586C>A?assembly=hg38",
        "id": "chr20:g.44651586C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/73598374",
        "rs": 73598374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-43280227-C-A?dataset=gnomad_r2_1",
        "id": "20-43280227-C-A",
        "variant": "20:43280227 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44651586-C-A?dataset=gnomad_r4",
        "id": "20-44651586-C-A",
        "variant": "20:44651586 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 44651586,
          "referenceAllele": "C",
          "start": 44651585
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44651586C>A",
        "CM000682.2:g.44651586C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 43280227,
          "referenceAllele": "C",
          "start": 43280226
        }
      ],
      "hgvs": [
        "NC_000020.10:g.43280227C>A",
        "CM000682.1:g.43280227C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 42713641,
          "referenceAllele": "C",
          "start": 42713640
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42713641C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5150,
          "referenceAllele": "G",
          "start": 5149
        }
      ],
      "hgvs": [
        "NG_007385.1:g.5150G>T",
        "LRG_16:g.5150G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000559"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "G",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.6:n.113G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 319,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.2:c.-121+316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512234.1:n.-121+316G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.6:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000440946.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.2:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000441818.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.6:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000446464.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "referenceAllele": "G",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695889.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512240.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512240.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22,
          "referenceAllele": "G",
          "start": 21
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695891.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512241.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512241.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695949.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512281.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512281.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695957.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512286.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512286.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695991.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512314.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512314.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695992.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512315.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512315.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695993.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512316.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512316.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695994.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512317.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512317.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695995.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512318.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512318.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695996.1:n.93G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695997.1:n.93G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696003.1:n.114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696004.1:n.114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696006.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512325.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512325.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696009.1:n.133G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696010.1:n.135G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696017.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512333.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512333.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696034.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512343.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512343.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696038.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512344.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512344.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696039.1:n.321+316G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696058.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512361.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512361.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696059.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512362.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512362.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696060.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512363.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512363.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696061.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512364.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512364.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 514,
          "referenceAllele": "G",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696062.1:c.96+514G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512365.1:n.96+514G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101,
          "referenceAllele": "G",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696063.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512366.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512366.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696064.1:c.-118+316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512367.1:n.-118+316G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 14,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696065.1:c.-121+316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512368.1:n.-121+316G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696075.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512374.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512374.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696076.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512375.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512375.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696077.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512376.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512376.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696078.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512377.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512377.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696079.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512378.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512378.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696080.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512379.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512379.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696084.1:n.123G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696104.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512399.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512399.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696105.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512400.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000512400.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.9:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000361965.4:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.22G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.22G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Asp8Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Asp8Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "referenceAllele": "G",
          "start": 156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.8:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000361965.4:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.5:n.106G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000535573.1:n.332+316G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.1:n.213+316G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.5:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000440946.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000441818.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.5:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:p.Asp8Tyr",
        "hgvsWellDefined": "ENSP00000446464.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000545776.5:n.76G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087698202",
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.2:c.22G>T",
        "LRG_16t1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Asp8Tyr",
        "hgvsWellDefined": "NP_000013.2:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_005260236.2:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260293.1:p.Asp8Tyr",
        "hgvsWellDefined": "XP_005260293.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528478.1:c.-268G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526780.1:n.-268G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "endIntronDirection": "+",
          "endIntronOffset": 316,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "+",
          "startIntronOffset": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528479.1:c.-257+316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526781.1:n.-257+316G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76,
          "referenceAllele": "G",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XR_244129.1:n.76G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087698202",
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.3:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Asp8Tyr",
        "hgvsWellDefined": "NP_000013.2:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.1:c.-268G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:n.-268G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.1:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:p.Asp8Tyr",
        "hgvsWellDefined": "NP_001308980.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.1:n.173G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087698202",
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.4:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Asp8Tyr",
        "hgvsWellDefined": "NP_000013.2:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.22G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.22G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Asp8Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Asp8Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.2:c.-268G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:n.-268G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.2:c.22G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:p.Asp8Tyr",
        "hgvsWellDefined": "NP_001308980.1:p.Asp8Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "G",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.2:n.114G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730959"
    }
  ],
  "type": "nucleotide"
}