{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14136770",
  "communityStandardTitle": [
    "NM_172217.5(IL16):c.*643T>C",
    "NM_181900.3(STARD5):c.*3815A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1252318[alleleid]",
        "alleleId": 1252318,
        "preferredName": "NM_181900.3(STARD5):c.*3815A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1261119",
        "RCV": [
          "RCV001671520"
        ],
        "variationId": 1261119
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.81601782T>C?assembly=hg19",
        "id": "chr15:g.81601782T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.81309441T>C?assembly=hg38",
        "id": "chr15:g.81309441T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131445",
        "rs": 1131445
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-81601782-T-C?dataset=gnomad_r2_1",
        "id": "15-81601782-T-C",
        "variant": "15:81601782 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-81309441-T-C?dataset=gnomad_r3",
        "id": "15-81309441-T-C",
        "variant": "15:81309441 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-81309441-T-C?dataset=gnomad_r4",
        "id": "15-81309441-T-C",
        "variant": "15:81309441 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 81309441,
          "referenceAllele": "T",
          "start": 81309440
        }
      ],
      "hgvs": [
        "NC_000015.10:g.81309441T>C",
        "CM000677.2:g.81309441T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 81601782,
          "referenceAllele": "T",
          "start": 81601781
        }
      ],
      "hgvs": [
        "NC_000015.9:g.81601782T>C",
        "CM000677.1:g.81601782T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 79388837,
          "referenceAllele": "T",
          "start": 79388836
        }
      ],
      "hgvs": [
        "NC_000015.8:g.79388837T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117564,
          "referenceAllele": "T",
          "start": 117563
        }
      ],
      "hgvs": [
        "NG_029933.1:g.117564T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4925,
          "referenceAllele": "T",
          "start": 4924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "ENST00000302987.10:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302935.5:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5127,
          "referenceAllele": "T",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "ENST00000706926.1:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516648.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5037,
          "referenceAllele": "T",
          "start": 5036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "ENST00000302987.9:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302935.5:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5017,
          "referenceAllele": "T",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "ENST00000683961.1:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508085.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000683961.1:c.*643T>C"
          },
          "RefSeq": {
            "hgvs": "NM_172217.5:c.*643T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000508085.1:n.*643T>C"
          },
          "RefSeq": {
            "hgvs": "NP_757366.2:n.*643T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4499,
          "referenceAllele": "A",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018065",
      "geneNCBI_id": 80765,
      "geneSymbol": "STARD5",
      "hgvs": [
        "ENST00000302824.7:c.*3815A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304032.6:n.*3815A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302824.7:c.*3815A>G"
          },
          "RefSeq": {
            "hgvs": "NM_181900.3:c.*3815A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304032.6:n.*3815A>G"
          },
          "RefSeq": {
            "hgvs": "NP_871629.1:n.*3815A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4483,
          "referenceAllele": "A",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018065",
      "geneNCBI_id": 80765,
      "geneSymbol": "STARD5",
      "hgvs": [
        "ENST00000302824.6:c.*3815A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304032.6:n.*3815A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4999,
          "referenceAllele": "T",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "ENST00000394660.6:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378155.2:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018065",
      "geneNCBI_id": 80765,
      "geneSymbol": "STARD5",
      "hgvs": [
        "ENST00000560916.1:n.462A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5000,
          "referenceAllele": "T",
          "start": 4999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001172128.1:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165599.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2755,
          "referenceAllele": "T",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_004513.5:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004504.3:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4743,
          "referenceAllele": "T",
          "start": 4742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_172217.3:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_757366.2:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5207,
          "referenceAllele": "T",
          "start": 5206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001352684.1:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339613.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5163,
          "referenceAllele": "T",
          "start": 5162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001352685.1:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339614.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5127,
          "referenceAllele": "T",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001352686.1:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339615.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5018,
          "referenceAllele": "T",
          "start": 5017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_172217.4:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_757366.2:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4854,
          "referenceAllele": "T",
          "start": 4853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NR_148035.1:n.4854T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4499,
          "referenceAllele": "A",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018065",
      "geneNCBI_id": 80765,
      "geneSymbol": "STARD5",
      "hgvs": [
        "NM_181900.3:c.*3815A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_871629.1:n.*3815A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302824.7:c.*3815A>G"
          },
          "RefSeq": {
            "hgvs": "NM_181900.3:c.*3815A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304032.6:n.*3815A>G"
          },
          "RefSeq": {
            "hgvs": "NP_871629.1:n.*3815A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4999,
          "referenceAllele": "T",
          "start": 4998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001172128.2:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165599.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5206,
          "referenceAllele": "T",
          "start": 5205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001352684.2:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339613.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5162,
          "referenceAllele": "T",
          "start": 5161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001352685.2:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339614.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2698,
          "referenceAllele": "T",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_004513.6:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004504.3:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5017,
          "referenceAllele": "T",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_172217.5:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_757366.2:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000683961.1:c.*643T>C"
          },
          "RefSeq": {
            "hgvs": "NM_172217.5:c.*643T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000508085.1:n.*643T>C"
          },
          "RefSeq": {
            "hgvs": "NP_757366.2:n.*643T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4449,
          "referenceAllele": "A",
          "start": 4448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018065",
      "geneNCBI_id": 80765,
      "geneSymbol": "STARD5",
      "hgvs": [
        "NR_135013.2:n.4449A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4853,
          "referenceAllele": "T",
          "start": 4852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NR_148035.2:n.4853T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5127,
          "referenceAllele": "T",
          "start": 5126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005980",
      "geneNCBI_id": 3603,
      "geneSymbol": "IL16",
      "hgvs": [
        "NM_001352686.2:c.*643T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339615.1:n.*643T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720127"
    }
  ],
  "type": "nucleotide"
}