{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA220552",
  "communityStandardTitle": [
    "NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98598[alleleid]",
        "alleleId": 98598,
        "preferredName": "NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92691",
        "RCV": [
          "RCV000078454",
          "RCV001854380"
        ],
        "variationId": 92691
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-40695388-A-G",
        "id": "17-40695388-A-G",
        "variant": "17:40695388 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40695388A>G?assembly=hg19",
        "id": "chr17:g.40695388A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42543370A>G?assembly=hg38",
        "id": "chr17:g.42543370A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375103824",
        "rs": 375103824
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40695388-A-G?dataset=gnomad_r2_1",
        "id": "17-40695388-A-G",
        "variant": "17:40695388 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42543370-A-G?dataset=gnomad_r4",
        "id": "17-42543370-A-G",
        "variant": "17:42543370 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42543370,
          "referenceAllele": "A",
          "start": 42543369
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42543370A>G",
        "CM000679.2:g.42543370A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 40695388,
          "referenceAllele": "A",
          "start": 40695387
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40695388A>G",
        "CM000679.1:g.40695388A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 37948914,
          "referenceAllele": "A",
          "start": 37948913
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37948914A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12438,
          "referenceAllele": "A",
          "start": 12437
        }
      ],
      "hgvs": [
        "NG_011552.1:g.12438A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001811"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "referenceAllele": "A",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000225927.7:c.1364A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225927.1:p.Tyr455Cys",
        "hgvsWellDefined": "ENSP00000225927.1:p.Tyr455Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740682",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225927.7:c.1364A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000263.4:c.1364A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225927.1:p.Tyr455Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000254.2:p.Tyr455Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1465,
          "referenceAllele": "A",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000225927.6:c.1364A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225927.1:p.Tyr455Cys",
        "hgvsWellDefined": "ENSP00000225927.1:p.Tyr455Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "A",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000591587.1:c.702A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467836.1:n.702A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "A",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "ENST00000592454.1:c.403A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100937",
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "A",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NM_000263.3:c.1364A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000254.2:p.Tyr455Cys",
        "hgvsWellDefined": "NP_000254.2:p.Tyr455Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "A",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_006721920.2:c.533A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721983.1:p.Tyr178Cys",
        "hgvsWellDefined": "XP_006721983.1:p.Tyr178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "A",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_011524840.1:c.365A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523142.1:p.Tyr122Cys",
        "hgvsWellDefined": "XP_011523142.1:p.Tyr122Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1352,
          "referenceAllele": "A",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_017024687.1:c.533A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880176.1:p.Tyr178Cys",
        "hgvsWellDefined": "XP_016880176.1:p.Tyr178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3456,
          "referenceAllele": "A",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_024450771.1:c.1421A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306539.1:p.Tyr474Cys",
        "hgvsWellDefined": "XP_024306539.1:p.Tyr474Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "A",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "XM_024450772.1:c.365A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306540.1:p.Tyr122Cys",
        "hgvsWellDefined": "XP_024306540.1:p.Tyr122Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100937",
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "referenceAllele": "A",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NM_000263.4:c.1364A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000254.2:p.Tyr455Cys",
        "hgvsWellDefined": "NP_000254.2:p.Tyr455Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662375",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225927.7:c.1364A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000263.4:c.1364A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225927.1:p.Tyr455Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000254.2:p.Tyr455Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}