{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377518111",
  "communityStandardTitle": [
    "NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=683180[alleleid]",
        "alleleId": 683180,
        "preferredName": "NM_000235.4(LIPA):c.253C>A (p.Gln85Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/695063",
        "RCV": [
          "RCV000857278",
          "RCV001858539"
        ],
        "variationId": 695063
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.90988132G>T?assembly=hg19",
        "id": "chr10:g.90988132G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89228375G>T?assembly=hg38",
        "id": "chr10:g.89228375G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045094",
        "rs": 797045094
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-90988132-G-T?dataset=gnomad_r2_1",
        "id": "10-90988132-G-T",
        "variant": "10:90988132 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-89228375-G-T?dataset=gnomad_r4",
        "id": "10-89228375-G-T",
        "variant": "10:89228375 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 89228375,
          "referenceAllele": "G",
          "start": 89228374
        }
      ],
      "hgvs": [
        "NC_000010.11:g.89228375G>T",
        "CM000672.2:g.89228375G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90988132,
          "referenceAllele": "G",
          "start": 90988131
        }
      ],
      "hgvs": [
        "NC_000010.10:g.90988132G>T",
        "CM000672.1:g.90988132G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 90978112,
          "referenceAllele": "G",
          "start": 90978111
        }
      ],
      "hgvs": [
        "NC_000010.9:g.90978112G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28529,
          "referenceAllele": "C",
          "start": 28528
        }
      ],
      "hgvs": [
        "NG_008194.1:g.28529C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000936"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000336233.10:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337354.5:p.Gln85Lys",
        "hgvsWellDefined": "ENSP00000337354.5:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747566",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336233.10:c.253C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000235.4:c.253C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337354.5:p.Gln85Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000226.2:p.Gln85Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000282673.5:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282673.4:p.Gln85Lys",
        "hgvsWellDefined": "ENSP00000282673.4:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000336233.9:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337354.5:p.Gln85Lys",
        "hgvsWellDefined": "ENSP00000337354.5:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000371837.5:c.85C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360903.1:p.Gln29Lys",
        "hgvsWellDefined": "ENSP00000360903.1:p.Gln29Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000428800.5:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388415.1:p.Gln85Lys",
        "hgvsWellDefined": "ENSP00000388415.1:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "ENST00000456827.5:c.-96C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413019.2:n.-96C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825096968",
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_000235.3:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000226.2:p.Gln85Lys",
        "hgvsWellDefined": "NP_000226.2:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967156",
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001127605.2:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121077.1:p.Gln85Lys",
        "hgvsWellDefined": "NP_001121077.1:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.1:c.-96C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:n.-96C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "XM_024448023.1:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303791.1:p.Gln85Lys",
        "hgvsWellDefined": "XP_024303791.1:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825096968",
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_000235.4:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000226.2:p.Gln85Lys",
        "hgvsWellDefined": "NP_000226.2:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336233.10:c.253C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000235.4:c.253C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337354.5:p.Gln85Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000226.2:p.Gln85Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967156",
      "coordinates": [
        {
          "allele": "A",
          "end": 323,
          "referenceAllele": "C",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001127605.3:c.253C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121077.1:p.Gln85Lys",
        "hgvsWellDefined": "NP_001121077.1:p.Gln85Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 63,
          "referenceAllele": "C",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006617",
      "geneNCBI_id": 3988,
      "geneSymbol": "LIPA",
      "hgvs": [
        "NM_001288979.2:c.-96C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275908.1:n.-96C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716512"
    }
  ],
  "type": "nucleotide"
}