{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355963148",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.1045G>C (p.Asp349His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2752640[alleleid]",
        "alleleId": 2752640,
        "preferredName": "NM_000203.5(IDUA):c.1045G>C (p.Asp349His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2585078",
        "RCV": [
          "RCV003340978"
        ],
        "variationId": 2585078
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.996129G>C?assembly=hg19",
        "id": "chr4:g.996129G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1002341G>C?assembly=hg38",
        "id": "chr4:g.1002341G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368454909",
        "rs": 368454909
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1002341-G-C?dataset=gnomad_r4",
        "id": "4-1002341-G-C",
        "variant": "4:1002341 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 1002341,
          "referenceAllele": "G",
          "start": 1002340
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1002341G>C",
        "CM000666.2:g.1002341G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 996129,
          "referenceAllele": "G",
          "start": 996128
        }
      ],
      "hgvs": [
        "NC_000004.11:g.996129G>C",
        "CM000666.1:g.996129G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 986129,
          "referenceAllele": "G",
          "start": 986128
        }
      ],
      "hgvs": [
        "NC_000004.10:g.986129G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20345,
          "referenceAllele": "G",
          "start": 20344
        }
      ],
      "hgvs": [
        "NG_008103.1:g.20345G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.1045G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Asp349His",
        "hgvsWellDefined": "ENSP00000247933.4:p.Asp349His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.1045G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Asp349His",
        "hgvsWellDefined": "ENSP00000425081.2:p.Asp349His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1045G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1045G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Asp349His"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Asp349His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.1101G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.1045G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Asp349His",
        "hgvsWellDefined": "ENSP00000247933.4:p.Asp349His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.649G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:p.Asp217His",
        "hgvsWellDefined": "ENSP00000425081.1:p.Asp217His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.1152G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741812123",
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.1045G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Asp349His",
        "hgvsWellDefined": "NP_000194.2:p.Asp349His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "G",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.1133G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.649G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:p.Asp217His",
        "hgvsWellDefined": "XP_006713945.1:p.Asp217His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.1111G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Asp371His",
        "hgvsWellDefined": "XP_011511761.1:p.Asp371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.904G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Asp302His",
        "hgvsWellDefined": "XP_011511762.1:p.Asp302His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.838G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Asp280His",
        "hgvsWellDefined": "XP_011511763.1:p.Asp280His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.757G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:p.Asp253His",
        "hgvsWellDefined": "XP_011511764.1:p.Asp253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.757G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:p.Asp253His",
        "hgvsWellDefined": "XP_011511765.1:p.Asp253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.1114G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741812123",
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.1045G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Asp349His",
        "hgvsWellDefined": "NP_000194.2:p.Asp349His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1045G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1045G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Asp349His"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Asp349His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828097279",
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "G",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.649G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:p.Asp217His",
        "hgvsWellDefined": "NP_001350505.1:p.Asp217His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "referenceAllele": "G",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.838G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Asp280His",
        "hgvsWellDefined": "XP_011511763.1:p.Asp280His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1587,
          "referenceAllele": "G",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.85G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:p.Asp29His",
        "hgvsWellDefined": "XP_016863652.1:p.Asp29His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}