{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1964212747",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.1286A= (p.Asp429=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894292",
        "rs": 104894292
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36574590,
          "referenceAllele": "A",
          "start": 36574589
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36574590A=",
        "CM000673.2:g.36574590A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36596140,
          "referenceAllele": "A",
          "start": 36596139
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36596140A=",
        "CM000673.1:g.36596140A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 36552716,
          "referenceAllele": "A",
          "start": 36552715
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552716A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11578,
          "referenceAllele": "A",
          "start": 11577
        }
      ],
      "hgvs": [
        "NG_007528.1:g.11578A=",
        "LRG_98:g.11578A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1582,
          "referenceAllele": "A",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "A",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1709,
          "referenceAllele": "A",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "A",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1286A="
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1286A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Asp429="
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Asp429="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1398,
          "referenceAllele": "A",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "A",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1410,
          "referenceAllele": "A",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.1286A=",
        "LRG_98t1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "A",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "A",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1650,
          "referenceAllele": "A",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "A",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1586,
          "referenceAllele": "A",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709325",
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "A",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1286A="
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1286A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Asp429="
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Asp429="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1759,
          "referenceAllele": "A",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1697,
          "referenceAllele": "A",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "A",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1485,
          "referenceAllele": "A",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.1286A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Asp429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}