{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377142288",
  "communityStandardTitle": [
    "NM_002778.4(PSAP):c.1351-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1370242[alleleid]",
        "alleleId": 1370242,
        "preferredName": "NM_002778.4(PSAP):c.1351-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1469133",
        "RCV": [
          "RCV001993817"
        ],
        "variationId": 1469133
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73578870T>C?assembly=hg19",
        "id": "chr10:g.73578870T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71819113T>C?assembly=hg38",
        "id": "chr10:g.71819113T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2133029725",
        "rs": 2133029725
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 71819113,
          "referenceAllele": "T",
          "start": 71819112
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71819113T>C",
        "CM000672.2:g.71819113T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73578870,
          "referenceAllele": "T",
          "start": 73578869
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73578870T>C",
        "CM000672.1:g.73578870T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 73248876,
          "referenceAllele": "T",
          "start": 73248875
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73248876T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37213,
          "referenceAllele": "A",
          "start": 37212
        }
      ],
      "hgvs": [
        "NG_009301.1:g.37213A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001557"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.8:c.1351-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:n.1351-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.1351-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.1351-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:n.1351-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:n.1351-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1463,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394934.4:c.1360-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378392.2:n.1360-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1504,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1504,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.7:c.1351-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:n.1351-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000495196.1:n.159A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 602,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000610929.3:c.499-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480857.1:n.499-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1463,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.1:c.1360-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:n.1360-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1460,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1460,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.1:c.1357-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:n.1357-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009703"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1454,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.2:c.1351-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:n.1351-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1513,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1513,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.2:c.1360-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:n.1360-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.2:c.1357-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:n.1357-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1504,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1504,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.3:c.1351-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:n.1351-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1380,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1380,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.4:c.1351-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:n.1351-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.1351-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.1351-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:n.1351-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:n.1351-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1389,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.3:c.1360-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:n.1360-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1386,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.3:c.1357-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:n.1357-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676025"
    }
  ],
  "type": "nucleotide"
}