{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380151516",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.1143A>C (p.Glu381Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36595997A>C?assembly=hg19",
        "id": "chr11:g.36595997A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36574447A>C?assembly=hg38",
        "id": "chr11:g.36574447A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 36574447,
          "referenceAllele": "A",
          "start": 36574446
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36574447A>C",
        "CM000673.2:g.36574447A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 36595997,
          "referenceAllele": "A",
          "start": 36595996
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36595997A>C",
        "CM000673.1:g.36595997A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 36552573,
          "referenceAllele": "A",
          "start": 36552572
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552573A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11435,
          "referenceAllele": "A",
          "start": 11434
        }
      ],
      "hgvs": [
        "NG_007528.1:g.11435A>C",
        "LRG_98:g.11435A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "A",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Glu381Asp",
        "hgvsWellDefined": "ENSP00000513411.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "A",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Glu381Asp",
        "hgvsWellDefined": "ENSP00000513412.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1566,
          "referenceAllele": "A",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Glu381Asp",
        "hgvsWellDefined": "ENSP00000513413.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Glu381Asp",
        "hgvsWellDefined": "ENSP00000299440.5:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1143A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1143A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Glu381Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Glu381Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1255,
          "referenceAllele": "A",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Glu381Asp",
        "hgvsWellDefined": "ENSP00000299440.5:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1779,
          "referenceAllele": "A",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Glu381Asp",
        "hgvsWellDefined": "ENSP00000434610.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "A",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.1143A>C",
        "LRG_98t1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_000439.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Glu381Asp",
        "hgvsWellDefined": "XP_005253098.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Glu381Asp",
        "hgvsWellDefined": "XP_011518552.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1507,
          "referenceAllele": "A",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Glu381Asp",
        "hgvsWellDefined": "XP_011518553.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "referenceAllele": "A",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Glu381Asp",
        "hgvsWellDefined": "XP_005253098.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1443,
          "referenceAllele": "A",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Glu381Asp",
        "hgvsWellDefined": "XP_011518552.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "A",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Glu381Asp",
        "hgvsWellDefined": "NP_000439.2:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1143A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1143A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Glu381Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Glu381Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "referenceAllele": "A",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001364206.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1554,
          "referenceAllele": "A",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001364207.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "referenceAllele": "A",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001364208.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "A",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.1143A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001364209.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}