{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA231158",
  "communityStandardTitle": [
    "NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134666[alleleid]",
        "alleleId": 134666,
        "preferredName": "NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129220",
        "RCV": [
          "RCV000117215",
          "RCV000599889",
          "RCV001520721",
          "RCV003952568"
        ],
        "variationId": 129220
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153220560-T-G",
        "id": "X-153220560-T-G",
        "variant": "X:153220560 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153220560T>G?assembly=hg19",
        "id": "chrX:g.153220560T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153955109T>G?assembly=hg38",
        "id": "chrX:g.153955109T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201404751",
        "rs": 201404751
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153220560-T-G?dataset=gnomad_r2_1",
        "id": "X-153220560-T-G",
        "variant": "X:153220560 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153955109-T-G?dataset=gnomad_r3",
        "id": "X-153955109-T-G",
        "variant": "X:153955109 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153955109-T-G?dataset=gnomad_r4",
        "id": "X-153955109-T-G",
        "variant": "X:153955109 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153955109,
          "referenceAllele": "T",
          "start": 153955108
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153955109T>G",
        "CM000685.2:g.153955109T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153220560,
          "referenceAllele": "T",
          "start": 153220559
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153220560T>G",
        "CM000685.1:g.153220560T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152873754,
          "referenceAllele": "T",
          "start": 152873753
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152873754T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21260,
          "referenceAllele": "A",
          "start": 21259
        }
      ],
      "hgvs": [
        "NG_012513.1:g.21260A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002431"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4268,
          "referenceAllele": "A",
          "start": 4267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.12:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Asn1097Thr",
        "hgvsWellDefined": "ENSP00000309555.7:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.3290A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.3290A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Asn1097Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Asn1097Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4257,
          "referenceAllele": "A",
          "start": 4256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.11:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Asn1097Thr",
        "hgvsWellDefined": "ENSP00000309555.7:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3634,
          "referenceAllele": "A",
          "start": 3633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000369984.4:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359001.4:p.Asn1097Thr",
        "hgvsWellDefined": "ENSP00000359001.4:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA231159",
      "coordinates": [
        {
          "allele": "C",
          "end": 3818,
          "referenceAllele": "A",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.2:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Asn1097Thr",
        "hgvsWellDefined": "NP_005325.2:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_006724878.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_006724879.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531144.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529446.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529446.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098185"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531145.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529447.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529447.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531146.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529448.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529448.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529449.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4283,
          "referenceAllele": "A",
          "start": 4282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.1:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529450.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4085,
          "referenceAllele": "A",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531149.1:c.3092A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529451.1:p.Asn1031Thr",
        "hgvsWellDefined": "XP_011529451.1:p.Asn1031Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098190"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531150.1:c.2381A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529452.1:p.Asn794Thr",
        "hgvsWellDefined": "XP_011529452.1:p.Asn794Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4809,
          "referenceAllele": "A",
          "start": 4808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.3:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_006724878.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4808,
          "referenceAllele": "A",
          "start": 4807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.3:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_006724879.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4809,
          "referenceAllele": "A",
          "start": 4808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.3:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529449.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4808,
          "referenceAllele": "A",
          "start": 4807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.3:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Asn1097Thr",
        "hgvsWellDefined": "XP_011529450.1:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4612,
          "referenceAllele": "A",
          "start": 4611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029471.2:c.3092A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884960.1:p.Asn1031Thr",
        "hgvsWellDefined": "XP_016884960.1:p.Asn1031Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2471,
          "referenceAllele": "A",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029472.1:c.2381A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884961.1:p.Asn794Thr",
        "hgvsWellDefined": "XP_016884961.1:p.Asn794Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA231159",
      "coordinates": [
        {
          "allele": "C",
          "end": 4268,
          "referenceAllele": "A",
          "start": 4267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.3:c.3290A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Asn1097Thr",
        "hgvsWellDefined": "NP_005325.2:p.Asn1097Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.3290A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.3290A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Asn1097Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Asn1097Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}