{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA209573",
  "communityStandardTitle": [
    "NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=208941[alleleid]",
        "alleleId": 208941,
        "preferredName": "NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211131",
        "RCV": [
          "RCV000195023",
          "RCV001400453"
        ],
        "variationId": 211131
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153221807-C-T",
        "id": "X-153221807-C-T",
        "variant": "X:153221807 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153221807C>T?assembly=hg19",
        "id": "chrX:g.153221807C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153956356C>T?assembly=hg38",
        "id": "chrX:g.153956356C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374223163",
        "rs": 374223163
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153221807-C-T?dataset=gnomad_r2_1",
        "id": "X-153221807-C-T",
        "variant": "X:153221807 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153956356-C-T?dataset=gnomad_r3",
        "id": "X-153956356-C-T",
        "variant": "X:153956356 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153956356-C-T?dataset=gnomad_r4",
        "id": "X-153956356-C-T",
        "variant": "X:153956356 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153956356,
          "referenceAllele": "C",
          "start": 153956355
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153956356C>T",
        "CM000685.2:g.153956356C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153221807,
          "referenceAllele": "C",
          "start": 153221806
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153221807C>T",
        "CM000685.1:g.153221807C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 152875001,
          "referenceAllele": "C",
          "start": 152875000
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152875001C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20013,
          "referenceAllele": "G",
          "start": 20012
        }
      ],
      "hgvs": [
        "NG_012513.1:g.20013G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002431"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.12:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.2691G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.2691G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Ala897="
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Ala897="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3658,
          "referenceAllele": "G",
          "start": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000310441.11:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309555.7:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3035,
          "referenceAllele": "G",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "ENST00000369984.4:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359001.4:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829599579",
      "coordinates": [
        {
          "allele": "A",
          "end": 3219,
          "referenceAllele": "G",
          "start": 3218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.2:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531144.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529446.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531145.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529447.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531146.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529448.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3684,
          "referenceAllele": "G",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.1:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3486,
          "referenceAllele": "G",
          "start": 3485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531149.1:c.2493G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529451.1:p.Ala831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "G",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531150.1:c.1782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529452.1:p.Ala594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4210,
          "referenceAllele": "G",
          "start": 4209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724815.3:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724878.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4209,
          "referenceAllele": "G",
          "start": 4208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_006724816.3:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724879.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4210,
          "referenceAllele": "G",
          "start": 4209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531147.3:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529449.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4209,
          "referenceAllele": "G",
          "start": 4208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_011531148.3:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529450.1:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4013,
          "referenceAllele": "G",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029471.2:c.2493G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884960.1:p.Ala831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "XM_017029472.1:c.1782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884961.1:p.Ala594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829599579",
      "coordinates": [
        {
          "allele": "A",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004839",
      "geneNCBI_id": 3054,
      "geneSymbol": "HCFC1",
      "hgvs": [
        "NM_005334.3:c.2691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005325.2:p.Ala897="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666915",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310441.12:c.2691G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005334.3:c.2691G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309555.7:p.Ala897="
          },
          "RefSeq": {
            "hgvs": "NP_005325.2:p.Ala897="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}