{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10557134",
  "communityStandardTitle": [
    "NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2754794[alleleid]",
        "alleleId": 2754794,
        "preferredName": "NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2590761",
        "RCV": [
          "RCV003349152",
          "RCV003523162"
        ],
        "variationId": 2590761
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153220092-C-T",
        "id": "X-153220092-C-T",
        "variant": "X:153220092 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153220092C>T?assembly=hg19",
        "id": "chrX:g.153220092C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153954641C>T?assembly=hg38",
        "id": "chrX:g.153954641C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374683078",
        "rs": 374683078
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153220092-C-T?dataset=gnomad_r2_1",
        "id": "X-153220092-C-T",
        "variant": "X:153220092 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153954641-C-T?dataset=gnomad_r3",
        "id": "X-153954641-C-T",
        "variant": "X:153954641 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153954641-C-T?dataset=gnomad_r4",
        "id": "X-153954641-C-T",
        "variant": "X:153954641 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153954641,
          "referenceAllele": "C",
          "start": 153954640
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153954641C>T",
        "CM000685.2:g.153954641C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153220092,
          "referenceAllele": "C",
          "start": 153220091
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153220092C>T",
        "CM000685.1:g.153220092C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152873286,
          "referenceAllele": "C",
          "start": 152873285
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152873286C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21728,
          "referenceAllele": "G",
          "start": 21727
        }
      ],
      "hgvs": [
        "NG_012513.1:g.21728G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002431"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4736,
          "referenceAllele": "G",
          "start": 4735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.12:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Arg1253His",
        "hgvsWellDefined": "ENSP00000309555.7:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.3758G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.3758G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Arg1253His"
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Arg1253His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4725,
          "referenceAllele": "G",
          "start": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.11:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Arg1253His",
        "hgvsWellDefined": "ENSP00000309555.7:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4102,
          "referenceAllele": "G",
          "start": 4101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000369984.4:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359001.4:p.Arg1253His",
        "hgvsWellDefined": "ENSP00000359001.4:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741921071",
      "coordinates": [
        {
          "allele": "A",
          "end": 4286,
          "referenceAllele": "G",
          "start": 4285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.2:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Arg1253His",
        "hgvsWellDefined": "NP_005325.2:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Arg1253His",
        "hgvsWellDefined": "XP_006724878.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Arg1253His",
        "hgvsWellDefined": "XP_006724879.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531144.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529446.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529446.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531145.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529447.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529447.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531146.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529448.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529448.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529449.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4751,
          "referenceAllele": "G",
          "start": 4750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.1:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529450.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4553,
          "referenceAllele": "G",
          "start": 4552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531149.1:c.3560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529451.1:p.Arg1187His",
        "hgvsWellDefined": "XP_011529451.1:p.Arg1187His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2938,
          "referenceAllele": "G",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531150.1:c.2849G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529452.1:p.Arg950His",
        "hgvsWellDefined": "XP_011529452.1:p.Arg950His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5277,
          "referenceAllele": "G",
          "start": 5276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.3:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Arg1253His",
        "hgvsWellDefined": "XP_006724878.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5276,
          "referenceAllele": "G",
          "start": 5275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.3:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Arg1253His",
        "hgvsWellDefined": "XP_006724879.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5277,
          "referenceAllele": "G",
          "start": 5276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.3:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529449.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5276,
          "referenceAllele": "G",
          "start": 5275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.3:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Arg1253His",
        "hgvsWellDefined": "XP_011529450.1:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5080,
          "referenceAllele": "G",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029471.2:c.3560G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884960.1:p.Arg1187His",
        "hgvsWellDefined": "XP_016884960.1:p.Arg1187His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2939,
          "referenceAllele": "G",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029472.1:c.2849G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884961.1:p.Arg950His",
        "hgvsWellDefined": "XP_016884961.1:p.Arg950His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741921071",
      "coordinates": [
        {
          "allele": "A",
          "end": 4736,
          "referenceAllele": "G",
          "start": 4735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.3:c.3758G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Arg1253His",
        "hgvsWellDefined": "NP_005325.2:p.Arg1253His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.3758G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.3758G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Arg1253His"
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Arg1253His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}