{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645369584",
  "communityStandardTitle": [
    "NM_174916.3(UBR1):c.1912-6T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=422014[alleleid]",
        "alleleId": 422014,
        "preferredName": "NM_174916.3(UBR1):c.1912-6T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429675",
        "RCV": [
          "RCV000493399",
          "RCV002056824"
        ],
        "variationId": 429675
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43330087A>C?assembly=hg19",
        "id": "chr15:g.43330087A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43037889A>C?assembly=hg38",
        "id": "chr15:g.43037889A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131691523",
        "rs": 1131691523
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 43037889,
          "referenceAllele": "A",
          "start": 43037888
        }
      ],
      "hgvs": [
        "NC_000015.10:g.43037889A>C",
        "CM000677.2:g.43037889A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 43330087,
          "referenceAllele": "A",
          "start": 43330086
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43330087A>C",
        "CM000677.1:g.43330087A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 41117379,
          "referenceAllele": "A",
          "start": 41117378
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41117379A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73200,
          "referenceAllele": "T",
          "start": 73199
        }
      ],
      "hgvs": [
        "NG_012182.1:g.73200T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1927,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000290650.9:c.1912-6T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290650.4:n.1912-6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290650.9:c.1912-6T>G"
          },
          "RefSeq": {
            "hgvs": "NM_174916.3:c.1912-6T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290650.4:n.1912-6T>G"
          },
          "RefSeq": {
            "hgvs": "NP_777576.1:n.1912-6T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1990,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1990,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000290650.8:c.1912-6T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290650.4:n.1912-6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2002,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 2002,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000546274.6:c.1912-6T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477932.1:n.1912-6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1977,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1977,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NM_174916.2:c.1912-6T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_777576.1:n.1912-6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "T",
          "start": 1927,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NM_174916.3:c.1912-6T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_777576.1:n.1912-6T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290650.9:c.1912-6T>G"
          },
          "RefSeq": {
            "hgvs": "NM_174916.3:c.1912-6T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290650.4:n.1912-6T>G"
          },
          "RefSeq": {
            "hgvs": "NP_777576.1:n.1912-6T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}