{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10631097",
  "communityStandardTitle": [
    "NM_002032.3(FTH1):c.-204A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=314447[alleleid]",
        "alleleId": 314447,
        "preferredName": "NM_002032.3(FTH1):c.-204A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305147",
        "RCV": [
          "RCV001823897"
        ],
        "variationId": 305147
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61735101T>C?assembly=hg19",
        "id": "chr11:g.61735101T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61967629T>C?assembly=hg38",
        "id": "chr11:g.61967629T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886048433",
        "rs": 886048433
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61735101-T-C?dataset=gnomad_r2_1",
        "id": "11-61735101-T-C",
        "variant": "11:61735101 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61967629-T-C?dataset=gnomad_r3",
        "id": "11-61967629-T-C",
        "variant": "11:61967629 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61967629-T-C?dataset=gnomad_r4",
        "id": "11-61967629-T-C",
        "variant": "11:61967629 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 61967629,
          "referenceAllele": "T",
          "start": 61967628
        }
      ],
      "hgvs": [
        "NC_000011.10:g.61967629T>C",
        "CM000673.2:g.61967629T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 61735101,
          "referenceAllele": "T",
          "start": 61735100
        }
      ],
      "hgvs": [
        "NC_000011.9:g.61735101T>C",
        "CM000673.1:g.61735101T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 61491677,
          "referenceAllele": "T",
          "start": 61491676
        }
      ],
      "hgvs": [
        "NC_000011.8:g.61491677T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5032,
          "referenceAllele": "A",
          "start": 5031
        }
      ],
      "hgvs": [
        "NG_008346.1:g.5032A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001044"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000620041.5:c.-115A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484477.1:n.-115A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6,
          "referenceAllele": "A",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000273550.12:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273550.7:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743297",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000273550.12:c.-204A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002032.3:c.-204A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000273550.7:n.-204A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002023.2:n.-204A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "referenceAllele": "A",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000273550.11:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000273550.7:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000529191.5:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431659.1:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000529548.1:c.-390A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436947.1:n.-390A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000529631.5:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431575.1:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000530019.5:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433470.1:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000532829.5:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432223.1:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5,
          "referenceAllele": "A",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000534180.1:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434403.1:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3,
          "referenceAllele": "A",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "ENST00000620041.4:c.-110A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484477.1:n.-110A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "referenceAllele": "A",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "NM_002032.2:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002023.2:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6,
          "referenceAllele": "A",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003976",
      "geneNCBI_id": 2495,
      "geneSymbol": "FTH1",
      "hgvs": [
        "NM_002032.3:c.-204A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002023.2:n.-204A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000273550.12:c.-204A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002032.3:c.-204A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000273550.7:n.-204A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002023.2:n.-204A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}