{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1949565311",
  "communityStandardTitle": [
    "NM_000519.4(HBD):c.143A= (p.Asp48=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34977235",
        "rs": 34977235
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5234163,
          "referenceAllele": "T",
          "start": 5234162
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5234163T=",
        "CM000673.2:g.5234163T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5255393,
          "referenceAllele": "T",
          "start": 5255392
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5255393T=",
        "CM000673.1:g.5255393T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5211969,
          "referenceAllele": "T",
          "start": 5211968
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5211969T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63453,
          "referenceAllele": "A",
          "start": 63452
        }
      ],
      "hgvs": [
        "NG_000007.3:g.63453A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14495,
          "referenceAllele": "A",
          "start": 14494
        }
      ],
      "hgvs": [
        "NG_063112.2:g.14495A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "A",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000643122.1:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494708.1:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000650601.1:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497529.1:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.143A="
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.143A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Asp48="
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Asp48="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000292901.7:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292901.3:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000380299.3:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369654.3:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "endIntronDirection": "+",
          "endIntronOffset": 179,
          "referenceAllele": "A",
          "start": 142,
          "startIntronDirection": "+",
          "startIntronOffset": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000417377.1:c.92+179A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414741.1:n.92+179A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000429817.1:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393810.1:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077699176",
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.3:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077699176",
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "A",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.4:c.143A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Asp48="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.143A="
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.143A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Asp48="
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Asp48="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}