{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1949691969",
  "communityStandardTitle": [
    "NC_000011.10:g.5448346C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10500641",
        "rs": 10500641
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5448346,
          "referenceAllele": "C",
          "start": 5448345
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5448346C=",
        "CM000673.2:g.5448346C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5469576,
          "referenceAllele": "C",
          "start": 5469575
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5469576C=",
        "CM000673.1:g.5469576C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 5426152,
          "referenceAllele": "C",
          "start": 5426151
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5426152C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004830",
      "geneNCBI_id": 3046,
      "geneSymbol": "HBE1",
      "hgvs": [
        "ENST00000292896.3:c.-267+57223G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292896.2:n.-267+57223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255,
          "endIntronDirection": "+",
          "endIntronOffset": 57005,
          "referenceAllele": "G",
          "start": 255,
          "startIntronDirection": "+",
          "startIntronOffset": 57004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.6:c.-74+57005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.2:n.-74+57005G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 102446,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 102447
        }
      ],
      "hgvs": [
        "ENST00000380259.7:c.983-102447G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.3:n.983-102447G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "ENST00000415970.6:n.84+57223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "ENST00000418729.1:n.84+57223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "ENST00000420465.6:n.45+57223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "ENST00000420726.6:n.45+57223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS754852"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 36,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004830",
      "geneNCBI_id": 3046,
      "geneSymbol": "HBE1",
      "hgvs": [
        "ENST00000380237.5:c.-310+57223G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369586.1:n.-310+57223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272834"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 255,
          "endIntronDirection": "+",
          "endIntronOffset": 57005,
          "referenceAllele": "G",
          "start": 255,
          "startIntronDirection": "+",
          "startIntronOffset": 57004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380252.5:c.62+57005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369602.1:n.62+57005G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 102446,
          "referenceAllele": "G",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 102447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "ENST00000380259.6:c.-564-102447G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369609.2:n.-564-102447G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 49,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 49,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004830",
      "geneNCBI_id": 3046,
      "geneSymbol": "HBE1",
      "hgvs": [
        "ENST00000396895.1:c.-267+57223G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380104.1:n.-267+57223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "NM_001005567.2:c.-360+57223G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005567.2:n.-360+57223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "NR_038321.1:n.84+57223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "endIntronDirection": "+",
          "endIntronOffset": 2648,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "+",
          "startIntronOffset": 2647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "XM_011520010.1:c.-360+2648G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518312.1:n.-360+2648G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "NM_001005567.3:c.-360+57223G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005567.2:n.-360+57223G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 57223,
          "referenceAllele": "G",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 57222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019599",
      "geneNCBI_id": 282763,
      "geneSymbol": "OR51B5",
      "hgvs": [
        "NR_038321.2:n.84+57223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702308"
    }
  ],
  "type": "nucleotide"
}