{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415125182",
  "communityStandardTitle": [
    "NM_005334.3(HCFC1):c.3259A>T (p.Thr1087Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153220591T>A?assembly=hg19",
        "id": "chrX:g.153220591T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153955140T>A?assembly=hg38",
        "id": "chrX:g.153955140T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153955140,
          "referenceAllele": "T",
          "start": 153955139
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153955140T>A",
        "CM000685.2:g.153955140T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153220591,
          "referenceAllele": "T",
          "start": 153220590
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153220591T>A",
        "CM000685.1:g.153220591T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152873785,
          "referenceAllele": "T",
          "start": 152873784
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152873785T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21229,
          "referenceAllele": "A",
          "start": 21228
        }
      ],
      "hgvs": [
        "NG_012513.1:g.21229A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002431"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4237,
          "referenceAllele": "A",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.12:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Thr1087Ser",
        "hgvsWellDefined": "ENSP00000309555.7:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.3259A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.3259A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Thr1087Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Thr1087Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4226,
          "referenceAllele": "A",
          "start": 4225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.11:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Thr1087Ser",
        "hgvsWellDefined": "ENSP00000309555.7:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3603,
          "referenceAllele": "A",
          "start": 3602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000369984.4:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359001.4:p.Thr1087Ser",
        "hgvsWellDefined": "ENSP00000359001.4:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580322855",
      "coordinates": [
        {
          "allele": "T",
          "end": 3787,
          "referenceAllele": "A",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.2:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Thr1087Ser",
        "hgvsWellDefined": "NP_005325.2:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_006724878.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_006724879.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531144.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529446.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529446.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531145.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529447.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529447.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531146.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529448.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529448.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529449.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4252,
          "referenceAllele": "A",
          "start": 4251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.1:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529450.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4054,
          "referenceAllele": "A",
          "start": 4053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531149.1:c.3061A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529451.1:p.Thr1021Ser",
        "hgvsWellDefined": "XP_011529451.1:p.Thr1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2439,
          "referenceAllele": "A",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531150.1:c.2350A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529452.1:p.Thr784Ser",
        "hgvsWellDefined": "XP_011529452.1:p.Thr784Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4778,
          "referenceAllele": "A",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.3:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_006724878.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4777,
          "referenceAllele": "A",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.3:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_006724879.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4778,
          "referenceAllele": "A",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.3:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529449.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4777,
          "referenceAllele": "A",
          "start": 4776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.3:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Thr1087Ser",
        "hgvsWellDefined": "XP_011529450.1:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4581,
          "referenceAllele": "A",
          "start": 4580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029471.2:c.3061A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884960.1:p.Thr1021Ser",
        "hgvsWellDefined": "XP_016884960.1:p.Thr1021Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "A",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029472.1:c.2350A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884961.1:p.Thr784Ser",
        "hgvsWellDefined": "XP_016884961.1:p.Thr784Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580322855",
      "coordinates": [
        {
          "allele": "T",
          "end": 4237,
          "referenceAllele": "A",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.3:c.3259A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Thr1087Ser",
        "hgvsWellDefined": "NP_005325.2:p.Thr1087Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.3259A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.3259A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Thr1087Ser"
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Thr1087Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}