{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16617969",
  "communityStandardTitle": [
    "NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406308[alleleid]",
        "alleleId": 406308,
        "preferredName": "NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418724",
        "RCV": [
          "RCV000481019",
          "RCV000624193",
          "RCV000723283",
          "RCV004527375"
        ],
        "variationId": 418724
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4458867T>C?assembly=hg19",
        "id": "chr3:g.4458867T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4417183T>C?assembly=hg38",
        "id": "chr3:g.4417183T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793391",
        "rs": 1064793391
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 4417183,
          "referenceAllele": "T",
          "start": 4417182
        }
      ],
      "hgvs": [
        "NC_000003.12:g.4417183T>C",
        "CM000665.2:g.4417183T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 4458867,
          "referenceAllele": "T",
          "start": 4458866
        }
      ],
      "hgvs": [
        "NC_000003.11:g.4458867T>C",
        "CM000665.1:g.4458867T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 4433867,
          "referenceAllele": "T",
          "start": 4433866
        }
      ],
      "hgvs": [
        "NC_000003.10:g.4433867T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55100,
          "referenceAllele": "A",
          "start": 55099
        }
      ],
      "hgvs": [
        "NG_016225.1:g.55100A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55100,
          "referenceAllele": "A",
          "start": 55099
        }
      ],
      "hgvs": [
        "NG_016225.2:g.55100A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673663"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000272902.10:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272902.5:p.Gln262Arg",
        "hgvsWellDefined": "ENSP00000272902.5:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.785A>G"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.785A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Gln262Arg"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Gln262Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "A",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000272902.9:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272902.5:p.Gln262Arg",
        "hgvsWellDefined": "ENSP00000272902.5:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "A",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000383843.9:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373355.5:p.Gln237Arg",
        "hgvsWellDefined": "ENSP00000373355.5:p.Gln237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000405420.2:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384977.2:p.Gln262Arg",
        "hgvsWellDefined": "ENSP00000384977.2:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "A",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000448413.5:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404384.1:p.Gln262Arg",
        "hgvsWellDefined": "ENSP00000404384.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299717"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 6204,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 6205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000458465.6:c.445-6205A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410060.2:n.445-6205A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999791",
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "A",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.1:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:p.Gln237Arg",
        "hgvsWellDefined": "NP_001158146.1:p.Gln237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000201",
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "A",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.1:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Gln262Arg",
        "hgvsWellDefined": "NP_001158147.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485857",
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "A",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.3:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Gln262Arg",
        "hgvsWellDefined": "NP_877437.2:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533623.1:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531925.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531925.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533624.1:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531926.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531926.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533625.1:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531927.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531927.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533626.1:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531928.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531928.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533624.3:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531926.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531926.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533625.3:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531927.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531927.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533626.3:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531928.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_011531928.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006252.2:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861741.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_016861741.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006253.1:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861742.1:p.Gln237Arg",
        "hgvsWellDefined": "XP_016861742.1:p.Gln237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006254.2:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861743.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_016861743.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006255.2:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861744.1:p.Gln262Arg",
        "hgvsWellDefined": "XP_016861744.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645485857",
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.4:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Gln262Arg",
        "hgvsWellDefined": "NP_877437.2:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.785A>G"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.785A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Gln262Arg"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Gln262Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999791",
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.2:c.710A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:p.Gln237Arg",
        "hgvsWellDefined": "NP_001158146.1:p.Gln237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000201",
      "coordinates": [
        {
          "allele": "G",
          "end": 809,
          "referenceAllele": "A",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.2:c.785A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Gln262Arg",
        "hgvsWellDefined": "NP_001158147.1:p.Gln262Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713114"
    }
  ],
  "type": "nucleotide"
}