{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12419383",
  "communityStandardTitle": [
    "NM_019111.5(HLA-DRA):c.82+718C>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN20437075"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32408527C>G?assembly=hg19",
        "id": "chr6:g.32408527C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32440750C>G?assembly=hg38",
        "id": "chr6:g.32440750C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/9268645",
        "rs": 9268645
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32408527-C-G?dataset=gnomad_r2_1",
        "id": "6-32408527-C-G",
        "variant": "6:32408527 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32440750-C-G?dataset=gnomad_r3",
        "id": "6-32440750-C-G",
        "variant": "6:32440750 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32440750-C-G?dataset=gnomad_r4",
        "id": "6-32440750-C-G",
        "variant": "6:32440750 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32440750,
          "referenceAllele": "C",
          "start": 32440749
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32440750C>G",
        "CM000668.2:g.32440750C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32408527,
          "referenceAllele": "C",
          "start": 32408526
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32408527C>G",
        "CM000668.1:g.32408527C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32516505,
          "referenceAllele": "C",
          "start": 32516504
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32516505C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 718,
          "referenceAllele": "C",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004947",
      "geneNCBI_id": 3122,
      "geneSymbol": "HLA-DRA",
      "hgvs": [
        "ENST00000395388.7:c.82+718C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378786.2:n.82+718C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395388.7:c.82+718C>G"
          },
          "RefSeq": {
            "hgvs": "NM_019111.5:c.82+718C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378786.2:n.82+718C>G"
          },
          "RefSeq": {
            "hgvs": "NP_061984.2:n.82+718C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 718,
          "referenceAllele": "C",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004947",
      "geneNCBI_id": 3122,
      "geneSymbol": "HLA-DRA",
      "hgvs": [
        "ENST00000374982.5:c.82+718C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364121.5:n.82+718C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 718,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004947",
      "geneNCBI_id": 3122,
      "geneSymbol": "HLA-DRA",
      "hgvs": [
        "ENST00000395388.6:c.82+718C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378786.2:n.82+718C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 718,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004947",
      "geneNCBI_id": 3122,
      "geneSymbol": "HLA-DRA",
      "hgvs": [
        "NM_019111.4:c.82+718C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061984.2:n.82+718C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 718,
          "referenceAllele": "C",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004947",
      "geneNCBI_id": 3122,
      "geneSymbol": "HLA-DRA",
      "hgvs": [
        "NM_019111.5:c.82+718C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061984.2:n.82+718C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395388.7:c.82+718C>G"
          },
          "RefSeq": {
            "hgvs": "NM_019111.5:c.82+718C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378786.2:n.82+718C>G"
          },
          "RefSeq": {
            "hgvs": "NP_061984.2:n.82+718C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}