{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1949565118",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.338G= (p.Cys113=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33932908",
        "rs": 33932908
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5225704,
          "referenceAllele": "C",
          "start": 5225703
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5225704C=",
        "CM000673.2:g.5225704C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5246934,
          "referenceAllele": "C",
          "start": 5246933
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5246934C=",
        "CM000673.1:g.5246934C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5203510,
          "referenceAllele": "C",
          "start": 5203509
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5203510C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 71912,
          "referenceAllele": "G",
          "start": 71911
        }
      ],
      "hgvs": [
        "NG_000007.3:g.71912G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6368,
          "referenceAllele": "G",
          "start": 6367
        }
      ],
      "hgvs": [
        "NG_059281.1:g.6368G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.338G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Cys113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.338G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Cys113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.338G="
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.338G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Cys113="
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Cys113="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000475226.1:n.270G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.*154G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:n.*154G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206092",
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.338G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Cys113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206092",
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.338G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Cys113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.338G="
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.338G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Cys113="
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Cys113="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}