{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5547676",
  "communityStandardTitle": [
    "NM_002778.4(PSAP):c.721-13T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1655549[alleleid]",
        "alleleId": 1655549,
        "preferredName": "NM_002778.4(PSAP):c.721-13T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1665820",
        "RCV": [
          "RCV002193912",
          "RCV003481262"
        ],
        "variationId": 1665820
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73585663-A-G",
        "id": "10-73585663-A-G",
        "variant": "10:73585663 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73585663A>G?assembly=hg19",
        "id": "chr10:g.73585663A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71825906A>G?assembly=hg38",
        "id": "chr10:g.71825906A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370875535",
        "rs": 370875535
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73585663-A-G?dataset=gnomad_r2_1",
        "id": "10-73585663-A-G",
        "variant": "10:73585663 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71825906-A-G?dataset=gnomad_r3",
        "id": "10-71825906-A-G",
        "variant": "10:71825906 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71825906-A-G?dataset=gnomad_r4",
        "id": "10-71825906-A-G",
        "variant": "10:71825906 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 71825906,
          "referenceAllele": "A",
          "start": 71825905
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71825906A>G",
        "CM000672.2:g.71825906A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 73585663,
          "referenceAllele": "A",
          "start": 73585662
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73585663A>G",
        "CM000672.1:g.73585663A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 73255669,
          "referenceAllele": "A",
          "start": 73255668
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73255669A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30420,
          "referenceAllele": "T",
          "start": 30419
        }
      ],
      "hgvs": [
        "NG_009301.1:g.30420T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001557"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.8:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.721-13T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.721-13T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:n.721-13T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:n.721-13T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394934.4:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378392.2:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 874,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.7:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 5325,
          "referenceAllele": "T",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 5324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000610929.3:c.270+5325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480857.1:n.270+5325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000633965.1:c.122-13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.1:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.1:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 824,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 824,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.2:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 874,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.2:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 874,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.2:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 874,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.3:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.4:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.721-13T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.721-13T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:n.721-13T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:n.721-13T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.3:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.3:c.721-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:n.721-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676025"
    }
  ],
  "type": "nucleotide"
}