{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7273711",
  "communityStandardTitle": [
    "NM_001933.5(DLST):c.976-7C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1309467[alleleid]",
        "alleleId": 1309467,
        "preferredName": "NM_001933.5(DLST):c.976-7C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1319214",
        "RCV": [
          "RCV003238529"
        ],
        "variationId": 1319214
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-75366985-C-G",
        "id": "14-75366985-C-G",
        "variant": "14:75366985 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.75366985C>G?assembly=hg19",
        "id": "chr14:g.75366985C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74900282C>G?assembly=hg38",
        "id": "chr14:g.74900282C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200530358",
        "rs": 200530358
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-75366985-C-G?dataset=gnomad_r2_1",
        "id": "14-75366985-C-G",
        "variant": "14:75366985 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74900282-C-G?dataset=gnomad_r3",
        "id": "14-74900282-C-G",
        "variant": "14:74900282 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74900282-C-G?dataset=gnomad_r4",
        "id": "14-74900282-C-G",
        "variant": "14:74900282 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 74900282,
          "referenceAllele": "C",
          "start": 74900281
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74900282C>G",
        "CM000676.2:g.74900282C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 75366985,
          "referenceAllele": "C",
          "start": 75366984
        }
      ],
      "hgvs": [
        "NC_000014.8:g.75366985C>G",
        "CM000676.1:g.75366985C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 74436738,
          "referenceAllele": "C",
          "start": 74436737
        }
      ],
      "hgvs": [
        "NC_000014.7:g.74436738C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23392,
          "referenceAllele": "C",
          "start": 23391
        }
      ],
      "hgvs": [
        "NG_030313.1:g.23392C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004872"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1013,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "ENST00000334220.9:c.976-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335304.4:n.976-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747385",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334220.9:c.976-7C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001933.5:c.976-7C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000335304.4:n.976-7C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001924.2:n.976-7C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 955,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 955,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "ENST00000238671.11:c.*714-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238671.7:n.*714-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1036,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "ENST00000334220.8:c.976-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335304.4:n.976-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 871,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 871,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "ENST00000554612.5:c.*719-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451670.1:n.*719-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 869,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 869,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "ENST00000555089.5:c.*605-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452422.1:n.*605-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "NM_001933.4:c.976-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001924.2:n.976-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 980,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "NR_033814.1:n.981-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "NR_045209.1:n.990-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 918,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "XR_001750184.2:n.919-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1013,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "NM_001933.5:c.976-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001924.2:n.976-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334220.9:c.976-7C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001933.5:c.976-7C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000335304.4:n.976-7C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001924.2:n.976-7C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 955,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 955,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "NR_033814.2:n.956-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 964,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002911",
      "geneNCBI_id": 1743,
      "geneSymbol": "DLST",
      "hgvs": [
        "NR_045209.2:n.965-7C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702352"
    }
  ],
  "type": "nucleotide"
}