{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2802168",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=293214[alleleid]",
        "alleleId": 293214,
        "preferredName": "NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/350228",
        "RCV": [
          "RCV000277691",
          "RCV002379241"
        ],
        "variationId": 350228
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-996115-C-G",
        "id": "4-996115-C-G",
        "variant": "4:996115 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.996115C>G?assembly=hg19",
        "id": "chr4:g.996115C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1002327C>G?assembly=hg38",
        "id": "chr4:g.1002327C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202191662",
        "rs": 202191662
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-996115-C-G?dataset=gnomad_r2_1",
        "id": "4-996115-C-G",
        "variant": "4:996115 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1002327-C-G?dataset=gnomad_r3",
        "id": "4-1002327-C-G",
        "variant": "4:1002327 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-1002327-C-G?dataset=gnomad_r4",
        "id": "4-1002327-C-G",
        "variant": "4:1002327 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 1002327,
          "referenceAllele": "C",
          "start": 1002326
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1002327C>G",
        "CM000666.2:g.1002327C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 996115,
          "referenceAllele": "C",
          "start": 996114
        }
      ],
      "hgvs": [
        "NC_000004.11:g.996115C>G",
        "CM000666.1:g.996115C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 986115,
          "referenceAllele": "C",
          "start": 986114
        }
      ],
      "hgvs": [
        "NC_000004.10:g.986115C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20331,
          "referenceAllele": "C",
          "start": 20330
        }
      ],
      "hgvs": [
        "NG_008103.1:g.20331C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Ala344Gly",
        "hgvsWellDefined": "ENSP00000247933.4:p.Ala344Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Ala344Gly",
        "hgvsWellDefined": "ENSP00000425081.2:p.Ala344Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1031C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1031C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Ala344Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Ala344Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.1087C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Ala344Gly",
        "hgvsWellDefined": "ENSP00000247933.4:p.Ala344Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.635C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:p.Ala212Gly",
        "hgvsWellDefined": "ENSP00000425081.1:p.Ala212Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.1138C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417278",
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Ala344Gly",
        "hgvsWellDefined": "NP_000194.2:p.Ala344Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.1119C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "C",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.635C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:p.Ala212Gly",
        "hgvsWellDefined": "XP_006713945.1:p.Ala212Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.1097C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Ala366Gly",
        "hgvsWellDefined": "XP_011511761.1:p.Ala366Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.890C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Ala297Gly",
        "hgvsWellDefined": "XP_011511762.1:p.Ala297Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1091,
          "referenceAllele": "C",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.824C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Ala275Gly",
        "hgvsWellDefined": "XP_011511763.1:p.Ala275Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.743C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:p.Ala248Gly",
        "hgvsWellDefined": "XP_011511764.1:p.Ala248Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.743C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:p.Ala248Gly",
        "hgvsWellDefined": "XP_011511765.1:p.Ala248Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.1100C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645417278",
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.1031C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Ala344Gly",
        "hgvsWellDefined": "NP_000194.2:p.Ala344Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.1031C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.1031C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Ala344Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Ala344Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828097261",
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.635C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:p.Ala212Gly",
        "hgvsWellDefined": "NP_001350505.1:p.Ala212Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.824C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Ala275Gly",
        "hgvsWellDefined": "XP_011511763.1:p.Ala275Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.71C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:p.Ala24Gly",
        "hgvsWellDefined": "XP_016863652.1:p.Ala24Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}