{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355964966",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1941480[alleleid]",
        "alleleId": 1941480,
        "preferredName": "NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2418868",
        "RCV": [
          "RCV003112112"
        ],
        "variationId": 2418868
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.997169G>A?assembly=hg19",
        "id": "chr4:g.997169G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1003381G>A?assembly=hg38",
        "id": "chr4:g.1003381G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1358581212",
        "rs": 1358581212
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-997169-G-A?dataset=gnomad_r2_1",
        "id": "4-997169-G-A",
        "variant": "4:997169 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1003381-G-A?dataset=gnomad_r3",
        "id": "4-1003381-G-A",
        "variant": "4:1003381 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1003381-G-A?dataset=gnomad_r4",
        "id": "4-1003381-G-A",
        "variant": "4:1003381 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 1003381,
          "referenceAllele": "G",
          "start": 1003380
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1003381G>A",
        "CM000666.2:g.1003381G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 997169,
          "referenceAllele": "G",
          "start": 997168
        }
      ],
      "hgvs": [
        "NC_000004.11:g.997169G>A",
        "CM000666.1:g.997169G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 987169,
          "referenceAllele": "G",
          "start": 987168
        }
      ],
      "hgvs": [
        "NC_000004.10:g.987169G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21385,
          "referenceAllele": "G",
          "start": 21384
        }
      ],
      "hgvs": [
        "NG_008103.1:g.21385G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.1561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Gly521Ser",
        "hgvsWellDefined": "ENSP00000247933.4:p.Gly521Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.1561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Gly521Ser",
        "hgvsWellDefined": "ENSP00000425081.2:p.Gly521Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1561G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1561G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Gly521Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Gly521Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.1617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.1561G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Gly521Ser",
        "hgvsWellDefined": "ENSP00000247933.4:p.Gly521Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000502829.1:n.550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:p.Gly389Ser",
        "hgvsWellDefined": "ENSP00000425081.1:p.Gly389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.1668G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580109257",
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.1561G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Gly521Ser",
        "hgvsWellDefined": "NP_000194.2:p.Gly521Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.1649G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "referenceAllele": "G",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:p.Gly389Ser",
        "hgvsWellDefined": "XP_006713945.1:p.Gly389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Gly543Ser",
        "hgvsWellDefined": "XP_011511761.1:p.Gly543Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1461,
          "referenceAllele": "G",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.1420G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Gly474Ser",
        "hgvsWellDefined": "XP_011511762.1:p.Gly474Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Gly452Ser",
        "hgvsWellDefined": "XP_011511763.1:p.Gly452Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2170,
          "referenceAllele": "G",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.1273G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:p.Gly425Ser",
        "hgvsWellDefined": "XP_011511764.1:p.Gly425Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.1273G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:p.Gly425Ser",
        "hgvsWellDefined": "XP_011511765.1:p.Gly425Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1817,
          "referenceAllele": "G",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.1817G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580109257",
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.1561G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Gly521Ser",
        "hgvsWellDefined": "NP_000194.2:p.Gly521Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1561G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1561G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Gly521Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Gly521Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828097552",
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:p.Gly389Ser",
        "hgvsWellDefined": "NP_001350505.1:p.Gly389Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1794,
          "referenceAllele": "G",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.1354G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Gly452Ser",
        "hgvsWellDefined": "XP_011511763.1:p.Gly452Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2103,
          "referenceAllele": "G",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:p.Gly201Ser",
        "hgvsWellDefined": "XP_016863652.1:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}