{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5593589",
  "communityStandardTitle": [
    "NM_000235.4(LIPA):c.846A>G (p.Thr282=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266300[alleleid]",
        "alleleId": 266300,
        "preferredName": "NM_000235.4(LIPA):c.846A>G (p.Thr282=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282063",
        "RCV": [
          "RCV000296316",
          "RCV000673100",
          "RCV001391322",
          "RCV002446516"
        ],
        "variationId": 282063
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-90982316-T-C",
        "id": "10-90982316-T-C",
        "variant": "10:90982316 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.90982316T>C?assembly=hg19",
        "id": "chr10:g.90982316T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89222559T>C?assembly=hg38",
        "id": "chr10:g.89222559T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/534838107",
        "rs": 534838107
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-90982316-T-C?dataset=gnomad_r2_1",
        "id": "10-90982316-T-C",
        "variant": "10:90982316 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-89222559-T-C?dataset=gnomad_r3",
        "id": "10-89222559-T-C",
        "variant": "10:89222559 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-89222559-T-C?dataset=gnomad_r4",
        "id": "10-89222559-T-C",
        "variant": "10:89222559 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 89222559,
          "referenceAllele": "T",
          "start": 89222558
        }
      ],
      "hgvs": [
        "NC_000010.11:g.89222559T>C",
        "CM000672.2:g.89222559T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 90982316,
          "referenceAllele": "T",
          "start": 90982315
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90982316T>C",
        "CM000672.1:g.90982316T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 90972296,
          "referenceAllele": "T",
          "start": 90972295
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90972296T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 34345,
          "referenceAllele": "A",
          "start": 34344
        }
      ],
      "hgvs": [
        "NG_008194.1:g.34345A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000936"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "A",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000336233.10:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337354.5:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336233.10:c.846A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000235.4:c.846A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337354.5:p.Thr282="
          },
          "RefSeq": {
            "hgvs": "NP_000226.2:p.Thr282="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "A",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000336233.9:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337354.5:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "A",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000371837.5:c.678A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360903.1:p.Thr226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "A",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000428800.5:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388415.1:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000456827.5:c.498A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413019.2:p.Thr166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825097168",
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "A",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_000235.3:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000226.2:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825645731",
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001127605.2:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121077.1:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826748517",
      "coordinates": [
        {
          "allele": "G",
          "end": 920,
          "referenceAllele": "A",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.1:c.498A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:p.Thr166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "A",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "XM_024448023.1:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303791.1:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825097168",
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "A",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_000235.4:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000226.2:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336233.10:c.846A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000235.4:c.846A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337354.5:p.Thr282="
          },
          "RefSeq": {
            "hgvs": "NP_000226.2:p.Thr282="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825645731",
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001127605.3:c.846A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121077.1:p.Thr282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826748517",
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.2:c.498A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:p.Thr166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716512"
    }
  ],
  "type": "nucleotide"
}