{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5547474",
  "communityStandardTitle": [
    "NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=978786[alleleid]",
        "alleleId": 978786,
        "preferredName": "NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/991966",
        "RCV": [
          "RCV001280270",
          "RCV003481049",
          "RCV003355353",
          "RCV002537887"
        ],
        "variationId": 991966
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-73579526-C-G",
        "id": "10-73579526-C-G",
        "variant": "10:73579526 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.73579526C>G?assembly=hg19",
        "id": "chr10:g.73579526C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.71819769C>G?assembly=hg38",
        "id": "chr10:g.71819769C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754680319",
        "rs": 754680319
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-73579526-C-G?dataset=gnomad_r2_1",
        "id": "10-73579526-C-G",
        "variant": "10:73579526 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-71819769-C-G?dataset=gnomad_r4",
        "id": "10-71819769-C-G",
        "variant": "10:71819769 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 71819769,
          "referenceAllele": "C",
          "start": 71819768
        }
      ],
      "hgvs": [
        "NC_000010.11:g.71819769C>G",
        "CM000672.2:g.71819769C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 73579526,
          "referenceAllele": "C",
          "start": 73579525
        }
      ],
      "hgvs": [
        "NC_000010.10:g.73579526C>G",
        "CM000672.1:g.73579526C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 73249532,
          "referenceAllele": "C",
          "start": 73249531
        }
      ],
      "hgvs": [
        "NC_000010.9:g.73249532C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36557,
          "referenceAllele": "G",
          "start": 36556
        }
      ],
      "hgvs": [
        "NG_009301.1:g.36557G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001557"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.8:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:p.Glu379Asp",
        "hgvsWellDefined": "ENSP00000378394.3:p.Glu379Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753333",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.1137G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.1137G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:p.Glu379Asp"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:p.Glu379Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "G",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394934.4:c.1146G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378392.2:p.Glu382Asp",
        "hgvsWellDefined": "ENSP00000378392.2:p.Glu382Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1291,
          "referenceAllele": "G",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000394936.7:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378394.3:p.Glu379Asp",
        "hgvsWellDefined": "ENSP00000378394.3:p.Glu379Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276430"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000493143.1:n.558G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "ENST00000610929.3:c.285G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480857.1:p.Glu95Asp",
        "hgvsWellDefined": "ENSP00000480857.1:p.Glu95Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139683468",
      "coordinates": [
        {
          "allele": "C",
          "end": 1250,
          "referenceAllele": "G",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.1:c.1146G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu382Asp",
        "hgvsWellDefined": "NP_001035930.1:p.Glu382Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403747",
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.1:c.1143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001035931.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829382333",
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.2:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu379Asp",
        "hgvsWellDefined": "NP_002769.1:p.Glu379Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139683468",
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "G",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.2:c.1146G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu382Asp",
        "hgvsWellDefined": "NP_001035930.1:p.Glu382Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403747",
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.2:c.1143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001035931.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829382333",
      "coordinates": [
        {
          "allele": "C",
          "end": 1291,
          "referenceAllele": "G",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.3:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu379Asp",
        "hgvsWellDefined": "NP_002769.1:p.Glu379Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829382333",
      "coordinates": [
        {
          "allele": "C",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_002778.4:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002769.1:p.Glu379Asp",
        "hgvsWellDefined": "NP_002769.1:p.Glu379Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394936.8:c.1137G>C"
          },
          "RefSeq": {
            "hgvs": "NM_002778.4:c.1137G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378394.3:p.Glu379Asp"
          },
          "RefSeq": {
            "hgvs": "NP_002769.1:p.Glu379Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139683468",
      "coordinates": [
        {
          "allele": "C",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042465.3:c.1146G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035930.1:p.Glu382Asp",
        "hgvsWellDefined": "NP_001035930.1:p.Glu382Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825403747",
      "coordinates": [
        {
          "allele": "C",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009498",
      "geneNCBI_id": 5660,
      "geneSymbol": "PSAP",
      "hgvs": [
        "NM_001042466.3:c.1143G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035931.1:p.Glu381Asp",
        "hgvsWellDefined": "NP_001035931.1:p.Glu381Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676025"
    }
  ],
  "type": "nucleotide"
}