{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117277",
  "communityStandardTitle": [
    "NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20166[alleleid]",
        "alleleId": 20166,
        "preferredName": "NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5127",
        "RCV": [
          "RCV000005434",
          "RCV003333949"
        ],
        "variationId": 5127
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-8757505-G-T",
        "id": "12-8757505-G-T",
        "variant": "12:8757505 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.8757505G>T?assembly=hg19",
        "id": "chr12:g.8757505G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.8604909G>T?assembly=hg38",
        "id": "chr12:g.8604909G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894323",
        "rs": 104894323
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-8757505-G-T?dataset=gnomad_r2_1",
        "id": "12-8757505-G-T",
        "variant": "12:8757505 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-8604909-G-T?dataset=gnomad_r3",
        "id": "12-8604909-G-T",
        "variant": "12:8604909 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-8604909-G-T?dataset=gnomad_r4",
        "id": "12-8604909-G-T",
        "variant": "12:8604909 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 8604909,
          "referenceAllele": "G",
          "start": 8604908
        }
      ],
      "hgvs": [
        "NC_000012.12:g.8604909G>T",
        "CM000674.2:g.8604909G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 8757505,
          "referenceAllele": "G",
          "start": 8757504
        }
      ],
      "hgvs": [
        "NC_000012.11:g.8757505G>T",
        "CM000674.1:g.8757505G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 8648772,
          "referenceAllele": "G",
          "start": 8648771
        }
      ],
      "hgvs": [
        "NC_000012.10:g.8648772G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12938,
          "referenceAllele": "C",
          "start": 12937
        }
      ],
      "hgvs": [
        "NG_011588.1:g.12938C>A",
        "LRG_17:g.12938C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001837"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000537228.6:c.428-17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445691.1:n.428-17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000543081.6:c.427+306C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439103.2:n.427+306C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "endIntronDirection": "-",
          "endIntronOffset": 571,
          "referenceAllele": "C",
          "start": 156,
          "startIntronDirection": "-",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000544516.6:c.157-572C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439538.2:n.157-572C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "referenceAllele": "C",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000545576.2:n.842C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000696246.1:c.413-17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512504.1:n.413-17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000696271.1:n.853C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000696272.1:c.426C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512515.1:p.Cys142Ter",
        "hgvsWellDefined": "ENSP00000512515.1:p.Cys142_Leu193delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "referenceAllele": "C",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000696273.1:c.474C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512516.1:p.Cys158Ter",
        "hgvsWellDefined": "ENSP00000512516.1:p.Cys158_Leu209delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000229335.11:c.441C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229335.6:p.Cys147Ter",
        "hgvsWellDefined": "ENSP00000229335.6:p.Cys147_Leu198delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229335.11:c.441C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020661.4:c.441C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229335.6:p.Cys147Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065712.1:p.Cys147Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "C",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000229335.10:c.441C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229335.6:p.Cys147Ter",
        "hgvsWellDefined": "ENSP00000229335.6:p.Cys147_Leu198delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000537228.5:c.428-17C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445691.1:n.428-17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000543081.5:c.423+306C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 571,
          "referenceAllele": "C",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000544516.5:c.153-572C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000545512.1:c.437C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "ENST00000545576.1:n.767C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365171"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117279",
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "NM_020661.2:c.441C>A",
        "LRG_17t1:c.441C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065712.1:p.Cys147Ter",
        "hgvsWellDefined": "NP_065712.1:p.Cys147_Leu198delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "XM_011520772.1:c.428-17C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519074.1:n.428-17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "endIntronDirection": "+",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 548,
          "startIntronDirection": "+",
          "startIntronOffset": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "XM_011520773.1:c.427+306C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519075.1:n.427+306C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 527,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "NM_001330343.1:c.428-17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317272.1:n.428-17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516729"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117279",
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "NM_020661.3:c.441C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065712.1:p.Cys147Ter",
        "hgvsWellDefined": "NP_065712.1:p.Cys147_Leu198delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 306,
          "referenceAllele": "C",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "XM_011520773.2:c.427+306C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519075.1:n.427+306C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545876"
    },
    {
      "@id": "http://reg.genome.network/allele/PA117279",
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "C",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "NM_020661.4:c.441C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065712.1:p.Cys147Ter",
        "hgvsWellDefined": "NP_065712.1:p.Cys147_Leu198delinsTrpAsnThrPheValGluAsnHisGluArgThrPheLysAlaTrpGluGlyLeuHisGluAsnSerValArgLeuSerArgGlnLeuArgArgIleLeuLeuProLeuTyrGluValAspAspLeuArgAspAlaPheArgThrLeuGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229335.11:c.441C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020661.4:c.441C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229335.6:p.Cys147Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065712.1:p.Cys147Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "endIntronDirection": "-",
          "endIntronOffset": 16,
          "referenceAllele": "C",
          "start": 519,
          "startIntronDirection": "-",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013203",
      "geneNCBI_id": 57379,
      "geneSymbol": "AICDA",
      "hgvs": [
        "NM_001330343.2:c.428-17C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317272.1:n.428-17C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686886"
    }
  ],
  "type": "nucleotide"
}