{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619667040",
  "communityStandardTitle": [
    "NM_002122.5(HLA-DQA1):c.548C= (p.Ala183=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7990",
        "rs": 7990
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 32642188,
          "referenceAllele": "C",
          "start": 32642187
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32642188C=",
        "CM000668.2:g.32642188C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 32609965,
          "referenceAllele": "C",
          "start": 32609964
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32609965C=",
        "CM000668.1:g.32609965C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 32717943,
          "referenceAllele": "C",
          "start": 32717942
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32717943C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9783,
          "referenceAllele": "C",
          "start": 9782
        }
      ],
      "hgvs": [
        "NG_032876.1:g.9783C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005249"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000343139.11:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339398.5:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748123",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343139.11:c.548C="
          },
          "RefSeq": {
            "hgvs": "NM_002122.5:c.548C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339398.5:p.Ala183="
          },
          "RefSeq": {
            "hgvs": "NP_002113.2:p.Ala183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000343139.9:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339398.5:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 587,
          "referenceAllele": "C",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000374949.2:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364087.2:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000395363.5:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378767.1:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000460633.1:n.576C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305326"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000482745.5:c.*1380C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436546.1:n.*1380C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "ENST00000496318.5:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437302.1:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124166",
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "NM_002122.3:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002113.2:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "XM_006715079.2:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715142.1:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "XM_006715079.4:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715142.1:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 400,
          "referenceAllele": "G",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 399
        }
      ],
      "hgvs": [
        "XR_001744085.1:n.86+400G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124166",
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004942",
      "geneNCBI_id": 3117,
      "geneSymbol": "HLA-DQA1",
      "hgvs": [
        "NM_002122.5:c.548C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002113.2:p.Ala183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343139.11:c.548C="
          },
          "RefSeq": {
            "hgvs": "NM_002122.5:c.548C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339398.5:p.Ala183="
          },
          "RefSeq": {
            "hgvs": "NP_002113.2:p.Ala183="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}