{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5579528",
  "communityStandardTitle": [
    "NM_033100.4(CDHR1):c.408C>T (p.Ile136=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322846[alleleid]",
        "alleleId": 322846,
        "preferredName": "NM_033100.4(CDHR1):c.408C>T (p.Ile136=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/301215",
        "RCV": [
          "RCV000264133",
          "RCV000902789"
        ],
        "variationId": 301215
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-85958847-C-T",
        "id": "10-85958847-C-T",
        "variant": "10:85958847 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.85958847C>T?assembly=hg19",
        "id": "chr10:g.85958847C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.84199091C>T?assembly=hg38",
        "id": "chr10:g.84199091C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148125234",
        "rs": 148125234
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-85958847-C-T?dataset=gnomad_r2_1",
        "id": "10-85958847-C-T",
        "variant": "10:85958847 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-84199091-C-T?dataset=gnomad_r3",
        "id": "10-84199091-C-T",
        "variant": "10:84199091 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-84199091-C-T?dataset=gnomad_r4",
        "id": "10-84199091-C-T",
        "variant": "10:84199091 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 84199091,
          "referenceAllele": "C",
          "start": 84199090
        }
      ],
      "hgvs": [
        "NC_000010.11:g.84199091C>T",
        "CM000672.2:g.84199091C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 85958847,
          "referenceAllele": "C",
          "start": 85958846
        }
      ],
      "hgvs": [
        "NC_000010.10:g.85958847C>T",
        "CM000672.1:g.85958847C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 85948827,
          "referenceAllele": "C",
          "start": 85948826
        }
      ],
      "hgvs": [
        "NC_000010.9:g.85948827C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9436,
          "referenceAllele": "C",
          "start": 9435
        }
      ],
      "hgvs": [
        "NG_028034.1:g.9436C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000623527.4:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485478.1:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623527.4:c.408C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033100.4:c.408C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485478.1:p.Ile136="
          },
          "RefSeq": {
            "hgvs": "NP_149091.1:p.Ile136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000332904.7:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331063.3:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "ENST00000623527.3:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485478.1:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406104"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826102866",
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_001171971.2:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830092805",
      "coordinates": [
        {
          "allele": "T",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_033100.3:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149091.1:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540337.1:c.582C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538639.1:p.Ile194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540338.1:c.582C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538640.1:p.Ile194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540339.1:c.29C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538641.1:p.Ser10Phe",
        "hgvsWellDefined": "XP_011538641.1:p.Ser10Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.1:c.582C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.Ile194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "XM_011540340.3:c.582C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538642.1:p.Ile194="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830092805",
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_033100.4:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149091.1:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671496",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623527.4:c.408C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033100.4:c.408C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485478.1:p.Ile136="
          },
          "RefSeq": {
            "hgvs": "NP_149091.1:p.Ile136="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826102866",
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014550",
      "geneNCBI_id": 92211,
      "geneSymbol": "CDHR1",
      "hgvs": [
        "NM_001171971.3:c.408C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165442.1:p.Ile136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678730"
    }
  ],
  "type": "nucleotide"
}