{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619113153",
  "communityStandardTitle": [
    "NM_005514.8(HLA-B):c.246G= (p.Glu82=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1050564",
        "rs": 1050564
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31356785,
          "referenceAllele": "C",
          "start": 31356784
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31356785C=",
        "CM000668.2:g.31356785C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31324562,
          "referenceAllele": "C",
          "start": 31324561
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31324562C=",
        "CM000668.1:g.31324562C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 31432541,
          "referenceAllele": "C",
          "start": 31432540
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31432541C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5428,
          "referenceAllele": "G",
          "start": 5427
        }
      ],
      "hgvs": [
        "NG_023187.1:g.5428G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000474381.2:n.1719G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905216"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000481849.6:n.1719G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000497377.6:n.1719G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905445"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000640094.2:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491275.2:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906383"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696558.1:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512716.1:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "G",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696559.1:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512717.1:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "G",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696560.1:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512718.1:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696561.1:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512719.1:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "G",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000696562.1:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512720.1:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000412585.7:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399168.2:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000412585.7:c.246G="
          },
          "RefSeq": {
            "hgvs": "NM_005514.8:c.246G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000399168.2:p.Glu82="
          },
          "RefSeq": {
            "hgvs": "NP_005505.2:p.Glu82="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000412585.6:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399168.2:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000434333.1:c.279G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405931.1:p.Glu93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292975"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000474381.1:n.121G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "ENST00000498007.1:n.267G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "hgvs": [
        "ENST00000603274.1:n.139C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072125640",
      "coordinates": [
        {
          "allele": "G",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "NM_005514.6:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005505.2:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030605"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "referenceAllele": "G",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "XM_011514556.1:c.279G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512858.1:p.Glu93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "XM_011514557.1:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512859.1:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "XR_926175.1:n.256G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072125640",
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "NM_005514.7:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005505.2:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525318"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072125640",
      "coordinates": [
        {
          "allele": "G",
          "end": 267,
          "referenceAllele": "G",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004932",
      "geneNCBI_id": 3106,
      "geneSymbol": "HLA-B",
      "hgvs": [
        "NM_005514.8:c.246G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005505.2:p.Glu82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000412585.7:c.246G="
          },
          "RefSeq": {
            "hgvs": "NM_005514.8:c.246G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000399168.2:p.Glu82="
          },
          "RefSeq": {
            "hgvs": "NP_005505.2:p.Glu82="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}