{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619080144",
  "communityStandardTitle": [
    "NM_002117.6(HLA-C):c.619+285C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114343571",
        "rs": 114343571
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31270788,
          "referenceAllele": "G",
          "start": 31270787
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31270788G=",
        "CM000668.2:g.31270788G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31238565,
          "referenceAllele": "G",
          "start": 31238564
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31238565G=",
        "CM000668.1:g.31238565G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31346544,
          "referenceAllele": "G",
          "start": 31346543
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31346544G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6344,
          "referenceAllele": "C",
          "start": 6343
        }
      ],
      "hgvs": [
        "NG_029422.2:g.6344C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004374"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.10:c.619+285C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:n.619+285C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.619+285C="
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.619+285C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:n.619+285C="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:n.619+285C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.9:c.619+285C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:n.619+285C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376237.8:c.*206+285C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365412.4:n.*206+285C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 634,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000383329.7:c.619+285C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372819.3:n.619+285C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000415537.1:c.617+285C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000487245.5:n.978+285C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000495835.1:n.808+285C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.5:c.619+285C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:n.619+285C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 285,
          "referenceAllele": "C",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.6:c.619+285C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:n.619+285C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.619+285C="
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.619+285C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:n.619+285C="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:n.619+285C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}