{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1964212701",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.1239G= (p.Glu413=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1850807745",
        "rs": 1850807745
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 36574543,
          "referenceAllele": "G",
          "start": 36574542
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36574543G=",
        "CM000673.2:g.36574543G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 36596093,
          "referenceAllele": "G",
          "start": 36596092
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36596093G=",
        "CM000673.1:g.36596093G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 36552669,
          "referenceAllele": "G",
          "start": 36552668
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552669G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11531,
          "referenceAllele": "G",
          "start": 11530
        }
      ],
      "hgvs": [
        "NG_007528.1:g.11531G=",
        "LRG_98:g.11531G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "G",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "G",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1239G="
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1239G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Glu413="
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Glu413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1875,
          "referenceAllele": "G",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.1239G=",
        "LRG_98t1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1505,
          "referenceAllele": "G",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1539,
          "referenceAllele": "G",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825177402",
      "coordinates": [
        {
          "allele": "G",
          "end": 1369,
          "referenceAllele": "G",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1239G="
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1239G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Glu413="
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Glu413="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828706757",
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707438",
      "coordinates": [
        {
          "allele": "G",
          "end": 1650,
          "referenceAllele": "G",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828708119",
      "coordinates": [
        {
          "allele": "G",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828708622",
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.1239G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Glu413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}