{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251510",
  "communityStandardTitle": [
    "NM_000140.5(FECH):c.1077+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15591[alleleid]",
        "alleleId": 15591,
        "preferredName": "NM_000140.5(FECH):c.1077+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552",
        "RCV": [
          "RCV000000582"
        ],
        "variationId": 552
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55221491C>T?assembly=hg19",
        "id": "chr18:g.55221491C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57554259C>T?assembly=hg38",
        "id": "chr18:g.57554259C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205245",
        "rs": 786205245
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57554259-C-T?dataset=gnomad_r4",
        "id": "18-57554259-C-T",
        "variant": "18:57554259 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 57554259,
          "referenceAllele": "C",
          "start": 57554258
        }
      ],
      "hgvs": [
        "NC_000018.10:g.57554259C>T",
        "CM000680.2:g.57554259C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 55221491,
          "referenceAllele": "C",
          "start": 55221490
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55221491C>T",
        "CM000680.1:g.55221491C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 53372489,
          "referenceAllele": "C",
          "start": 53372488
        }
      ],
      "hgvs": [
        "NC_000018.8:g.53372489C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37479,
          "referenceAllele": "G",
          "start": 37478
        }
      ],
      "hgvs": [
        "NG_008175.1:g.37479G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000919"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1253,
          "referenceAllele": "G",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000682485.1:n.1253G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1159,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000262093.11:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262093.6:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742269",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262093.11:c.1077+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000140.5:c.1077+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262093.6:n.1077+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000131.2:n.1077+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000382873.8:c.861+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372326.4:n.861+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1183,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1183,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000651787.1:n.1183+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000652755.1:c.1095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498358.1:n.1095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1229,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1229,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000262093.9:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262093.5:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1129,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000382873.7:c.1095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372326.3:n.1095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1221,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000585494.5:c.*804+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465243.1:n.*804+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000591977.5:c.344+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "G",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "ENST00000592699.5:c.979G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1194,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_000140.3:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000131.2:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1212,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_001012515.2:c.1095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012533.1:n.1095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1084,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "XM_011525881.1:c.996+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524183.1:n.996+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1115,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "XM_011525882.1:c.861+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524184.1:n.861+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1159,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_000140.4:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000131.2:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_001012515.3:c.1095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012533.1:n.1095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "XM_011525882.2:c.861+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524184.1:n.861+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1065,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "XM_017025614.2:c.978+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881103.1:n.978+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1159,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_000140.5:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000131.2:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262093.11:c.1077+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000140.5:c.1077+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262093.6:n.1077+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000131.2:n.1077+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_001012515.4:c.1095+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012533.1:n.1095+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1060,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_001371094.1:c.978+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358023.1:n.978+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1269,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1269,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_001371095.1:c.861+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358024.1:n.861+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1159,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NM_001374778.1:c.1077+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361707.1:n.1077+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693361"
    }
  ],
  "type": "nucleotide"
}