{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124675",
  "communityStandardTitle": [
    "NM_000519.4(HBD):c.349C>T (p.Arg117Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30105[alleleid]",
        "alleleId": 30105,
        "preferredName": "NM_000519.4(HBD):c.349C>T (p.Arg117Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15066",
        "RCV": [
          "RCV000016217",
          "RCV000016216"
        ],
        "variationId": 15066
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-5254289-G-A",
        "id": "11-5254289-G-A",
        "variant": "11:5254289 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5254289G>A?assembly=hg19",
        "id": "chr11:g.5254289G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.5233059G>A?assembly=hg38",
        "id": "chr11:g.5233059G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/33971270",
        "rs": 33971270
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5254289-G-A?dataset=gnomad_r2_1",
        "id": "11-5254289-G-A",
        "variant": "11:5254289 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5233059-G-A?dataset=gnomad_r3",
        "id": "11-5233059-G-A",
        "variant": "11:5233059 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5233059-G-A?dataset=gnomad_r4",
        "id": "11-5233059-G-A",
        "variant": "11:5233059 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5233059,
          "referenceAllele": "G",
          "start": 5233058
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5233059G>A",
        "CM000673.2:g.5233059G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5254289,
          "referenceAllele": "G",
          "start": 5254288
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5254289G>A",
        "CM000673.1:g.5254289G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 5210865,
          "referenceAllele": "G",
          "start": 5210864
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5210865G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64557,
          "referenceAllele": "C",
          "start": 64556
        }
      ],
      "hgvs": [
        "NG_000007.3:g.64557C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15599,
          "referenceAllele": "C",
          "start": 15598
        }
      ],
      "hgvs": [
        "NG_063112.2:g.15599C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673902"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000643122.1:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494708.1:p.Arg117Cys",
        "hgvsWellDefined": "ENSP00000494708.1:p.Arg117Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000650601.1:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497529.1:p.Arg117Cys",
        "hgvsWellDefined": "ENSP00000497529.1:p.Arg117Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771206",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.349C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.349C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Arg117Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Arg117Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "endIntronDirection": "-",
          "endIntronOffset": 260,
          "referenceAllele": "C",
          "start": 365,
          "startIntronDirection": "-",
          "startIntronOffset": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000292901.7:c.316-261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000292901.3:n.316-261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000380299.3:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369654.3:p.Arg117Cys",
        "hgvsWellDefined": "ENSP00000369654.3:p.Arg117Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "ENST00000417377.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414741.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124676",
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.3:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Arg117Cys",
        "hgvsWellDefined": "NP_000510.1:p.Arg117Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006576"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124676",
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NM_000519.4:c.349C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000510.1:p.Arg117Cys",
        "hgvsWellDefined": "NP_000510.1:p.Arg117Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650601.1:c.349C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000519.4:c.349C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497529.1:p.Arg117Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000510.1:p.Arg117Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}