{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2877468",
  "communityStandardTitle": [
    "NM_016955.4(SEPSECS):c.388+3A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=367948[alleleid]",
        "alleleId": 367948,
        "preferredName": "NM_016955.4(SEPSECS):c.388+3A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/378569",
        "RCV": [
          "RCV000428576",
          "RCV001333939",
          "RCV002265757"
        ],
        "variationId": 378569
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-25158475-T-C",
        "id": "4-25158475-T-C",
        "variant": "4:25158475 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.25158475T>C?assembly=hg19",
        "id": "chr4:g.25158475T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.25156853T>C?assembly=hg38",
        "id": "chr4:g.25156853T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757504141",
        "rs": 757504141
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-25158475-T-C?dataset=gnomad_r2_1",
        "id": "4-25158475-T-C",
        "variant": "4:25158475 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-25156853-T-C?dataset=gnomad_r3",
        "id": "4-25156853-T-C",
        "variant": "4:25156853 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-25156853-T-C?dataset=gnomad_r4",
        "id": "4-25156853-T-C",
        "variant": "4:25156853 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 25156853,
          "referenceAllele": "T",
          "start": 25156852
        }
      ],
      "hgvs": [
        "NC_000004.12:g.25156853T>C",
        "CM000666.2:g.25156853T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 25158475,
          "referenceAllele": "T",
          "start": 25158474
        }
      ],
      "hgvs": [
        "NC_000004.11:g.25158475T>C",
        "CM000666.1:g.25158475T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 24767573,
          "referenceAllele": "T",
          "start": 24767572
        }
      ],
      "hgvs": [
        "NC_000004.10:g.24767573T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8730,
          "referenceAllele": "A",
          "start": 8729
        }
      ],
      "hgvs": [
        "NG_028222.1:g.8730A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000382103.7:c.388+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371535.2:n.388+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382103.7:c.388+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016955.4:c.388+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371535.2:n.388+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_058651.3:n.388+3A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 569,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 569,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000680581.1:c.388+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506483.1:n.388+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1604,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000680824.1:n.1604+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 680,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000681071.1:n.680+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1435,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000681166.1:n.1435+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1529,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1529,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000681341.1:n.1529+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000681640.1:n.482+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000681948.1:c.643+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505991.1:n.643+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 550,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000358971.7:c.*186+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351857.3:n.*186+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000382103.6:c.388+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371535.2:n.388+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 295,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "ENST00000514585.5:c.*89+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421880.1:n.*89+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "NM_016955.3:c.388+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_058651.3:n.388+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_005248168.2:c.151+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248225.1:n.151+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_006713965.2:c.208+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714028.1:n.208+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_011513846.1:c.385+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512148.1:n.385+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081078"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 688,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_011513847.1:c.355+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512149.1:n.355+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_011513848.1:c.208+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512150.1:n.208+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_011513846.2:c.385+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512148.1:n.385+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543056"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 707,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 707,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_011513847.2:c.355+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512149.1:n.355+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_017008277.1:c.643+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863766.1:n.643+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "XM_017008278.1:c.-36+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863767.1:n.-36+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030605",
      "geneNCBI_id": 51091,
      "geneSymbol": "SEPSECS",
      "hgvs": [
        "NM_016955.4:c.388+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_058651.3:n.388+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382103.7:c.388+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_016955.4:c.388+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371535.2:n.388+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_058651.3:n.388+3A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}