{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1949569247",
  "communityStandardTitle": [
    "NM_000518.5(HBB):c.131A= (p.Glu44=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35262412",
        "rs": 35262412
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5226761,
          "referenceAllele": "T",
          "start": 5226760
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5226761T=",
        "CM000673.2:g.5226761T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5247991,
          "referenceAllele": "T",
          "start": 5247990
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5247991T=",
        "CM000673.1:g.5247991T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5204567,
          "referenceAllele": "T",
          "start": 5204566
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5204567T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70855,
          "referenceAllele": "A",
          "start": 70854
        }
      ],
      "hgvs": [
        "NG_000007.3:g.70855A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5311,
          "referenceAllele": "A",
          "start": 5310
        }
      ],
      "hgvs": [
        "NG_059281.1:g.5311A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "A",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.131A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:p.Glu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "A",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000335295.4:c.131A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333994.3:p.Glu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260096",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.131A="
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.131A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Glu44="
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Glu44="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "A",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000380315.2:c.131A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369671.2:p.Glu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "A",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000475226.1:n.63A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "A",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000485743.1:n.182A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "A",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000633227.1:c.115A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488004.1:p.Ser39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407656"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077697980",
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "A",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.4:c.131A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Glu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077697980",
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "A",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NM_000518.5:c.131A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000509.1:p.Glu44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335295.4:c.131A="
          },
          "RefSeq": {
            "hgvs": "NM_000518.5:c.131A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333994.3:p.Glu44="
          },
          "RefSeq": {
            "hgvs": "NP_000509.1:p.Glu44="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}