{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10578947",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233895[alleleid]",
        "alleleId": 233895,
        "preferredName": "NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/233820",
        "RCV": [
          "RCV000222411",
          "RCV000627984",
          "RCV002265695"
        ],
        "variationId": 233820
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108098602G>T?assembly=hg19",
        "id": "chr11:g.108098602G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108227875G>T?assembly=hg38",
        "id": "chr11:g.108227875G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876660661",
        "rs": 876660661
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108227875-G-T?dataset=gnomad_r4",
        "id": "11-108227875-G-T",
        "variant": "11:108227875 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108227875,
          "referenceAllele": "G",
          "start": 108227874
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108227875G>T",
        "CM000673.2:g.108227875G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108098602,
          "referenceAllele": "G",
          "start": 108098601
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108098602G>T",
        "CM000673.1:g.108098602G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107603812,
          "referenceAllele": "G",
          "start": 107603811
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107603812G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10044,
          "referenceAllele": "G",
          "start": 10043
        }
      ],
      "hgvs": [
        "NG_009830.1:g.10044G>T",
        "LRG_135:g.10044G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000388058.2:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683914.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507649.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000507649.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000518889.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000278616.4:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "G",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682147.1:n.302G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "G",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682430.1:n.271G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682465.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508284.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000508284.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.306G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682956.1:n.306G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683150.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507125.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000507125.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.322G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4711,
          "referenceAllele": "G",
          "start": 4710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683468.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508178.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000508178.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4832,
          "referenceAllele": "G",
          "start": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683488.1:n.4832G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683914.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507649.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000507649.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684029.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508010.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000508010.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000508245.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684061.1:n.306G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684179.1:n.306G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000435747.2:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638443.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491957.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000491957.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000639240.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491585.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000491585.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000639953.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492487.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000492487.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000640388.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492354.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000492354.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000502563.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000501606.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.172G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.172G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Asp58Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Asp58Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000278616.4:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000388058.2:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000526567.5:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480205.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000480205.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000435747.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527891.5:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433955.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000433955.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4694,
          "referenceAllele": "G",
          "start": 4693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000530958.5:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483338.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000483338.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000532931.5:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432318.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000432318.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000601453.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469471.1:p.Asp58Tyr",
        "hgvsWellDefined": "ENSP00000469471.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645497845",
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.172G>T",
        "LRG_135t1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Asp58Tyr",
        "hgvsWellDefined": "NP_000042.3:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Asp58Tyr",
        "hgvsWellDefined": "XP_005271618.2:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Asp58Tyr",
        "hgvsWellDefined": "XP_005271619.2:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 312,
          "referenceAllele": "G",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_006718906.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541142.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541143.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541144.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541145.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541148.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827628553",
      "coordinates": [
        {
          "allele": "T",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Asp58Tyr",
        "hgvsWellDefined": "NP_001338763.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827630084",
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "G",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351835.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338764.1:p.Asp58Tyr",
        "hgvsWellDefined": "NP_001338764.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035213",
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351836.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338765.1:p.Asp58Tyr",
        "hgvsWellDefined": "NP_001338765.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Asp58Tyr",
        "hgvsWellDefined": "XP_005271619.2:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_006718906.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541142.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541144.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_011541145.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.-851G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.-851G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "G",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_016873278.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "G",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_016873279.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_016873280.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Asp58Tyr",
        "hgvsWellDefined": "XP_016873281.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.905G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827628553",
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Asp58Tyr",
        "hgvsWellDefined": "NP_001338763.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645497845",
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Asp58Tyr",
        "hgvsWellDefined": "NP_000042.3:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.172G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.172G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Asp58Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Asp58Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827630084",
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "G",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351835.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338764.1:p.Asp58Tyr",
        "hgvsWellDefined": "NP_001338764.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035213",
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351836.2:c.172G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338765.1:p.Asp58Tyr",
        "hgvsWellDefined": "NP_001338765.1:p.Asp58Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719927"
    }
  ],
  "type": "nucleotide"
}