{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355962816",
  "communityStandardTitle": [
    "NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1677371[alleleid]",
        "alleleId": 1677371,
        "preferredName": "NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1685351",
        "RCV": [
          "RCV002249078",
          "RCV003101337"
        ],
        "variationId": 1685351
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.995933C>A?assembly=hg19",
        "id": "chr4:g.995933C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.1002145C>A?assembly=hg38",
        "id": "chr4:g.1002145C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781534097",
        "rs": 781534097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 1002145,
          "referenceAllele": "C",
          "start": 1002144
        }
      ],
      "hgvs": [
        "NC_000004.12:g.1002145C>A",
        "CM000666.2:g.1002145C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 995933,
          "referenceAllele": "C",
          "start": 995932
        }
      ],
      "hgvs": [
        "NC_000004.11:g.995933C>A",
        "CM000666.1:g.995933C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 985933,
          "referenceAllele": "C",
          "start": 985932
        }
      ],
      "hgvs": [
        "NC_000004.10:g.985933C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20149,
          "referenceAllele": "C",
          "start": 20148
        }
      ],
      "hgvs": [
        "NG_008103.1:g.20149C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.9:c.956C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Ala319Glu",
        "hgvsWellDefined": "ENSP00000247933.4:p.Ala319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.2:c.956C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.2:p.Ala319Glu",
        "hgvsWellDefined": "ENSP00000425081.2:p.Ala319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.956C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.956C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Ala319Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Ala319Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000652070.1:n.1012C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000247933.8:c.956C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247933.4:p.Ala319Glu",
        "hgvsWellDefined": "ENSP00000247933.4:p.Ala319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514224.1:c.560C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425081.1:p.Ala187Glu",
        "hgvsWellDefined": "ENSP00000425081.1:p.Ala187Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "ENST00000514698.5:n.956C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344122"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573164485",
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.4:c.956C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Ala319Glu",
        "hgvsWellDefined": "NP_000194.2:p.Ala319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NR_110313.1:n.1044C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_006713882.2:c.560C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713945.1:p.Ala187Glu",
        "hgvsWellDefined": "XP_006713945.1:p.Ala187Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513459.1:c.915C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511761.1:p.Arg305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513460.1:c.815C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511762.1:p.Ala272Glu",
        "hgvsWellDefined": "XP_011511762.1:p.Ala272Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.1:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Ala250Glu",
        "hgvsWellDefined": "XP_011511763.1:p.Ala250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513462.1:c.668C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511764.1:p.Ala223Glu",
        "hgvsWellDefined": "XP_011511764.1:p.Ala223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513463.1:c.668C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511765.1:p.Ala223Glu",
        "hgvsWellDefined": "XP_011511765.1:p.Ala223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XR_924947.1:n.1025C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121993"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573164485",
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_000203.5:c.956C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000194.2:p.Ala319Glu",
        "hgvsWellDefined": "NP_000194.2:p.Ala319Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510765",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514224.2:c.956C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000203.5:c.956C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000425081.2:p.Ala319Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000194.2:p.Ala319Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828097228",
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NM_001363576.1:c.560C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350505.1:p.Ala187Glu",
        "hgvsWellDefined": "NP_001350505.1:p.Ala187Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "C",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_011513461.2:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511763.1:p.Ala250Glu",
        "hgvsWellDefined": "XP_011511763.1:p.Ala250Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1498,
          "referenceAllele": "C",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "XM_017008163.1:c.-5C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863652.1:n.-5C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562720"
    }
  ],
  "type": "nucleotide"
}