{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351793007",
  "communityStandardTitle": [
    "NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4495970",
        "active": true,
        "id": "COSM4495970"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4495971",
        "active": true,
        "id": "COSM4495971"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=973368[alleleid]",
        "alleleId": 973368,
        "preferredName": "NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/985111",
        "RCV": [
          "RCV001265851",
          "RCV001830067"
        ],
        "variationId": 985111
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4491005G>A?assembly=hg19",
        "id": "chr3:g.4491005G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.4449321G>A?assembly=hg38",
        "id": "chr3:g.4449321G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1702889459",
        "rs": 1702889459
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-4449321-G-A?dataset=gnomad_r4",
        "id": "3-4449321-G-A",
        "variant": "3:4449321 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 4449321,
          "referenceAllele": "G",
          "start": 4449320
        }
      ],
      "hgvs": [
        "NC_000003.12:g.4449321G>A",
        "CM000665.2:g.4449321G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 4491005,
          "referenceAllele": "G",
          "start": 4491004
        }
      ],
      "hgvs": [
        "NC_000003.11:g.4491005G>A",
        "CM000665.1:g.4491005G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 4466005,
          "referenceAllele": "G",
          "start": 4466004
        }
      ],
      "hgvs": [
        "NC_000003.10:g.4466005G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22962,
          "referenceAllele": "C",
          "start": 22961
        }
      ],
      "hgvs": [
        "NG_016225.1:g.22962C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22962,
          "referenceAllele": "C",
          "start": 22961
        }
      ],
      "hgvs": [
        "NG_016225.2:g.22962C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673663"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000272902.10:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272902.5:p.Ser155Phe",
        "hgvsWellDefined": "ENSP00000272902.5:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.464C>T"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.464C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Ser155Phe"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Ser155Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 500,
          "referenceAllele": "C",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000272902.9:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272902.5:p.Ser155Phe",
        "hgvsWellDefined": "ENSP00000272902.5:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 3555,
          "referenceAllele": "C",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000383843.9:c.444+3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373355.5:n.444+3555C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000405420.2:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384977.2:p.Ser155Phe",
        "hgvsWellDefined": "ENSP00000384977.2:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "C",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000448413.5:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404384.1:p.Ser155Phe",
        "hgvsWellDefined": "ENSP00000404384.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 3555,
          "referenceAllele": "C",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "ENST00000458465.6:c.444+3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410060.2:n.444+3555C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "endIntronDirection": "+",
          "endIntronOffset": 3555,
          "referenceAllele": "C",
          "start": 481,
          "startIntronDirection": "+",
          "startIntronOffset": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.1:c.444+3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:n.444+3555C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000100",
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.1:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Ser155Phe",
        "hgvsWellDefined": "NP_001158147.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014616"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139750228",
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.3:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Ser155Phe",
        "hgvsWellDefined": "NP_877437.2:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533623.1:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531925.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531925.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533624.1:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531926.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531926.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533625.1:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531927.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531927.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533626.1:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531928.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531928.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533624.3:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531926.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531926.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533625.3:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531927.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531927.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_011533626.3:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531928.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_011531928.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006252.2:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861741.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_016861741.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "endIntronDirection": "+",
          "endIntronOffset": 3555,
          "referenceAllele": "C",
          "start": 469,
          "startIntronDirection": "+",
          "startIntronOffset": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006253.1:c.444+3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861742.1:n.444+3555C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006254.2:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861743.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_016861743.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "XM_017006255.2:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861744.1:p.Ser155Phe",
        "hgvsWellDefined": "XP_016861744.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139750228",
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_182760.4:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_877437.2:p.Ser155Phe",
        "hgvsWellDefined": "NP_877437.2:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272902.10:c.464C>T"
          },
          "RefSeq": {
            "hgvs": "NM_182760.4:c.464C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272902.5:p.Ser155Phe"
          },
          "RefSeq": {
            "hgvs": "NP_877437.2:p.Ser155Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 3555,
          "referenceAllele": "C",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164674.2:c.444+3555C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158146.1:n.444+3555C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000100",
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "C",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020376",
      "geneNCBI_id": 285362,
      "geneSymbol": "SUMF1",
      "hgvs": [
        "NM_001164675.2:c.464C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158147.1:p.Ser155Phe",
        "hgvsWellDefined": "NP_001158147.1:p.Ser155Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713114"
    }
  ],
  "type": "nucleotide"
}