{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1949583974",
  "communityStandardTitle": [
    "NM_000559.3(HBG1):c.38C= (p.Thr13=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33992775",
        "rs": 33992775
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5249767,
          "referenceAllele": "G",
          "start": 5249766
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5249767G=",
        "CM000673.2:g.5249767G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5270997,
          "referenceAllele": "G",
          "start": 5270996
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5270997G=",
        "CM000673.1:g.5270997G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 5227573,
          "referenceAllele": "G",
          "start": 5227572
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5227573G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 47849,
          "referenceAllele": "C",
          "start": 47848
        }
      ],
      "hgvs": [
        "NG_000007.3:g.47849C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "ENST00000330597.5:c.38C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327431.4:p.Thr13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747081",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330597.5:c.38C="
          },
          "RefSeq": {
            "hgvs": "NM_000559.3:c.38C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327431.4:p.Thr13="
          },
          "RefSeq": {
            "hgvs": "NP_000550.2:p.Thr13="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 1280
        }
      ],
      "hgvs": [
        "ENST00000642908.1:c.316-1280C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495346.1:n.316-1280C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 1280
        }
      ],
      "hgvs": [
        "ENST00000647543.1:c.379-1280C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496470.1:n.379-1280C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "referenceAllele": "C",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "ENST00000648735.1:n.89C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "ENST00000330597.3:c.38C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327431.3:p.Thr13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 1279,
          "referenceAllele": "C",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000620888.4:c.316-1280C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479637.1:n.316-1280C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "hgvs": [
        "ENST00000623781.1:c.320G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485381.1:p.Cys107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "referenceAllele": "C",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "ENST00000632727.1:c.38C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488759.1:p.Thr13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077698094",
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "NM_000559.2:c.38C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000550.2:p.Thr13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077698094",
      "coordinates": [
        {
          "allele": "C",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "NM_000559.3:c.38C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000550.2:p.Thr13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674891",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330597.5:c.38C="
          },
          "RefSeq": {
            "hgvs": "NM_000559.3:c.38C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327431.4:p.Thr13="
          },
          "RefSeq": {
            "hgvs": "NP_000550.2:p.Thr13="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}