{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619080305",
  "communityStandardTitle": [
    "NM_002117.6(HLA-C):c.594C= (p.Asn198=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131104",
        "rs": 1131104
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31271098,
          "referenceAllele": "G",
          "start": 31271097
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31271098G=",
        "CM000668.2:g.31271098G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31238875,
          "referenceAllele": "G",
          "start": 31238874
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31238875G=",
        "CM000668.1:g.31238875G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 31346854,
          "referenceAllele": "G",
          "start": 31346853
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31346854G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6034,
          "referenceAllele": "C",
          "start": 6033
        }
      ],
      "hgvs": [
        "NG_029422.2:g.6034C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004374"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.10:c.594C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.594C="
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.594C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Asn198="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Asn198="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376228.9:c.594C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365402.5:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000376237.8:c.*181C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365412.4:n.*181C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000383329.7:c.594C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372819.3:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000415537.1:c.592C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000487245.5:n.953C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "ENST00000495835.1:n.783C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126272",
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.5:c.594C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126272",
      "coordinates": [
        {
          "allele": "C",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004933",
      "geneNCBI_id": 3107,
      "geneSymbol": "HLA-C",
      "hgvs": [
        "NM_002117.6:c.594C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002108.4:p.Asn198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695459",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376228.10:c.594C="
          },
          "RefSeq": {
            "hgvs": "NM_002117.6:c.594C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365402.5:p.Asn198="
          },
          "RefSeq": {
            "hgvs": "NP_002108.4:p.Asn198="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}