{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA266005",
  "communityStandardTitle": [
    "NM_000022.4(ADA):c.385G>A (p.Val129Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79151[alleleid]",
        "alleleId": 79151,
        "preferredName": "NM_000022.4(ADA):c.385G>A (p.Val129Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68260",
        "RCV": [
          "RCV000059099"
        ],
        "variationId": 68260
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.43254303C>T?assembly=hg19",
        "id": "chr20:g.43254303C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.44625662C>T?assembly=hg38",
        "id": "chr20:g.44625662C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908731",
        "rs": 121908731
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-43254303-C-T?dataset=gnomad_r2_1",
        "id": "20-43254303-C-T",
        "variant": "20:43254303 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-44625662-C-T?dataset=gnomad_r4",
        "id": "20-44625662-C-T",
        "variant": "20:44625662 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 44625662,
          "referenceAllele": "C",
          "start": 44625661
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44625662C>T",
        "CM000682.2:g.44625662C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 43254303,
          "referenceAllele": "C",
          "start": 43254302
        }
      ],
      "hgvs": [
        "NC_000020.10:g.43254303C>T",
        "CM000682.1:g.43254303C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 42687717,
          "referenceAllele": "C",
          "start": 42687716
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42687717C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31074,
          "referenceAllele": "G",
          "start": 31073
        }
      ],
      "hgvs": [
        "NG_007385.1:g.31074G>A",
        "LRG_16:g.31074G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000559"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.6:n.476G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512234.1:p.Val78Met",
        "hgvsWellDefined": "ENSP00000512234.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.6:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000440946.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000441818.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 2583,
          "referenceAllele": "G",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.6:c.219-2584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.219-2584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 2731,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695889.1:c.219-2732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512240.1:n.219-2732G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2188,
          "referenceAllele": "G",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695890.1:n.2188G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 2731,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695891.1:c.219-2732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512241.1:n.219-2732G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 627,
          "referenceAllele": "G",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695927.1:c.463G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512270.1:p.Val155Met",
        "hgvsWellDefined": "ENSP00000512270.1:p.Val155Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695949.1:c.382G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512281.1:p.Val128Met",
        "hgvsWellDefined": "ENSP00000512281.1:p.Val128Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695957.1:c.362+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512286.1:n.362+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 2731,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695991.1:c.217-2732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512314.1:n.217-2732G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695992.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512315.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512315.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695993.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512316.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512316.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695994.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512317.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512317.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 2583,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695995.1:c.217-2584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512318.1:n.217-2584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695996.1:n.456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695997.1:n.433+794G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696003.1:n.477G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696004.1:n.477G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696006.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512325.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512325.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 329,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 329,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696007.1:c.329+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512326.1:n.329+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 301,
          "referenceAllele": "G",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696008.1:n.301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "referenceAllele": "G",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696009.1:n.496G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 461,
          "referenceAllele": "G",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696017.1:c.382G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512333.1:p.Val128Met",
        "hgvsWellDefined": "ENSP00000512333.1:p.Val128Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696034.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512343.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512343.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696035.1:n.495G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1075,
          "referenceAllele": "G",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696036.1:n.1075G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2062,
          "referenceAllele": "G",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696037.1:n.2062G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 475,
          "referenceAllele": "G",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696038.1:c.*131G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512344.1:n.*131G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696039.1:n.673G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696058.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512361.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512361.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696059.1:c.*330G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512362.1:n.*330G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696060.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512363.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512363.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696061.1:c.382G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512364.1:p.Val128Met",
        "hgvsWellDefined": "ENSP00000512364.1:p.Val128Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696062.1:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512365.1:p.Val150Met",
        "hgvsWellDefined": "ENSP00000512365.1:p.Val150Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696063.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512366.1:p.Val154Met",
        "hgvsWellDefined": "ENSP00000512366.1:p.Val154Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696064.1:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512367.1:p.Val78Met",
        "hgvsWellDefined": "ENSP00000512367.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 2731,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696065.1:c.66-2732G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512368.1:n.66-2732G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696075.1:c.*355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512374.1:n.*355G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696076.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512375.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512375.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696077.1:c.382G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512376.1:p.Val128Met",
        "hgvsWellDefined": "ENSP00000512376.1:p.Val128Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696078.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512377.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512377.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696079.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512378.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512378.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696080.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512379.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512379.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696082.1:c.463G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512380.1:p.Val155Met",
        "hgvsWellDefined": "ENSP00000512380.1:p.Val155Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "G",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696083.1:n.27G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696084.1:n.486G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696104.1:c.362+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512399.1:n.362+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696105.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512400.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000512400.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.9:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Val129Met",
        "hgvsWellDefined": "ENSP00000361965.4:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.385G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.385G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Val129Met"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Val129Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.8:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Val129Met",
        "hgvsWellDefined": "ENSP00000361965.4:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 59,
          "referenceAllele": "G",
          "start": 58
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000464097.5:n.59G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.5:n.469G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.5:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000440946.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:p.Val129Met",
        "hgvsWellDefined": "ENSP00000441818.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 2583,
          "referenceAllele": "G",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.5:c.219-2584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.219-2584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091229",
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.2:c.385G>A",
        "LRG_16t1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Val129Met",
        "hgvsWellDefined": "NP_000013.2:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_005260236.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260293.1:p.Val129Met",
        "hgvsWellDefined": "XP_005260293.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 416,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528478.1:c.73+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526780.1:n.73+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 661,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528479.1:c.73+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526781.1:n.73+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XR_244129.1:n.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091229",
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.3:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Val129Met",
        "hgvsWellDefined": "NP_000013.2:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.1:c.73+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:n.73+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026500",
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.1:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:p.Val129Met",
        "hgvsWellDefined": "NP_001308980.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.1:n.536G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091229",
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.4:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Val129Met",
        "hgvsWellDefined": "NP_000013.2:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.385G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.385G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Val129Met"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Val129Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 794,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.2:c.73+794G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:n.73+794G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026500",
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.2:c.385G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:p.Val129Met",
        "hgvsWellDefined": "NP_001308980.1:p.Val129Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.2:n.477G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730959"
    }
  ],
  "type": "nucleotide"
}