{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA286521415",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.1432T>C (p.Ser478Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1408554[alleleid]",
        "alleleId": 1408554,
        "preferredName": "NM_013275.6(ANKRD11):c.1432T>C (p.Ser478Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1406533",
        "RCV": [
          "RCV001935461",
          "RCV002555668",
          "RCV003416576"
        ],
        "variationId": 1406533
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89351518A>G?assembly=hg19",
        "id": "chr16:g.89351518A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89285110A>G?assembly=hg38",
        "id": "chr16:g.89285110A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372688828",
        "rs": 372688828
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89285110-A-G?dataset=gnomad_r3",
        "id": "16-89285110-A-G",
        "variant": "16:89285110 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89285110-A-G?dataset=gnomad_r4",
        "id": "16-89285110-A-G",
        "variant": "16:89285110 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 89285110,
          "referenceAllele": "A",
          "start": 89285109
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89285110A>G",
        "CM000678.2:g.89285110A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 89351518,
          "referenceAllele": "A",
          "start": 89351517
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89351518A>G",
        "CM000678.1:g.89351518A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 87879019,
          "referenceAllele": "A",
          "start": 87879018
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87879019A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210452,
          "referenceAllele": "T",
          "start": 210451
        }
      ],
      "hgvs": [
        "NG_032003.1:g.210452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210452,
          "referenceAllele": "T",
          "start": 210451
        }
      ],
      "hgvs": [
        "NG_032003.2:g.210452T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "T",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ser478Pro",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.1432T>C"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.1432T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ser478Pro"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ser478Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "T",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*1235T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*1235T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1723,
          "referenceAllele": "T",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ser478Pro",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1138,
          "referenceAllele": "T",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.1057T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:p.Ser353Pro",
        "hgvsWellDefined": "ENSP00000493644.1:p.Ser353Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1808,
          "referenceAllele": "T",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Ser478Pro",
        "hgvsWellDefined": "ENSP00000495226.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 3418,
          "referenceAllele": "T",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+3418T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+3418T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3204,
          "referenceAllele": "T",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000645212.1:n.3204T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "referenceAllele": "T",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646345.1:n.1424T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "T",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ser478Pro",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1652,
          "referenceAllele": "T",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*1235T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*1235T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1721,
          "referenceAllele": "T",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ser478Pro",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 3418,
          "referenceAllele": "T",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+3418T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373177",
      "coordinates": [
        {
          "allele": "C",
          "end": 1964,
          "referenceAllele": "T",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ser478Pro",
        "hgvsWellDefined": "NP_001243111.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375016",
      "coordinates": [
        {
          "allele": "C",
          "end": 1890,
          "referenceAllele": "T",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ser478Pro",
        "hgvsWellDefined": "NP_001243112.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573257589",
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "T",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ser478Pro",
        "hgvsWellDefined": "NP_037407.4:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1670,
          "referenceAllele": "T",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.1330T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Ser444Pro",
        "hgvsWellDefined": "XP_006721244.1:p.Ser444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1708,
          "referenceAllele": "T",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.1135T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Ser379Pro",
        "hgvsWellDefined": "XP_006721247.1:p.Ser379Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1950,
          "referenceAllele": "T",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521353.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1655,
          "referenceAllele": "T",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521354.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2088,
          "referenceAllele": "T",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521355.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2003,
          "referenceAllele": "T",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.1330T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ser444Pro",
        "hgvsWellDefined": "XP_011521356.1:p.Ser444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2276,
          "referenceAllele": "T",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.1330T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ser444Pro",
        "hgvsWellDefined": "XP_011521357.1:p.Ser444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.1303T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ser435Pro",
        "hgvsWellDefined": "XP_011521358.1:p.Ser435Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "T",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521359.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1954,
          "referenceAllele": "T",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521353.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "T",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521355.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1973,
          "referenceAllele": "T",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.1330T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ser444Pro",
        "hgvsWellDefined": "XP_011521356.1:p.Ser444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2258,
          "referenceAllele": "T",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.1330T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ser444Pro",
        "hgvsWellDefined": "XP_011521357.1:p.Ser444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1995,
          "referenceAllele": "T",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.1303T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ser435Pro",
        "hgvsWellDefined": "XP_011521358.1:p.Ser435Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1876,
          "referenceAllele": "T",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_011521359.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2440,
          "referenceAllele": "T",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_016878671.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2062,
          "referenceAllele": "T",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_016878672.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "T",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_016878673.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "T",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_016878674.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2436,
          "referenceAllele": "T",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_016878675.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1788,
          "referenceAllele": "T",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Ser478Pro",
        "hgvsWellDefined": "XP_016878676.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "T",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.1330T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Ser444Pro",
        "hgvsWellDefined": "XP_024306012.1:p.Ser444Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573257589",
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "T",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ser478Pro",
        "hgvsWellDefined": "NP_037407.4:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.1432T>C"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.1432T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ser478Pro"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ser478Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373177",
      "coordinates": [
        {
          "allele": "C",
          "end": 1964,
          "referenceAllele": "T",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ser478Pro",
        "hgvsWellDefined": "NP_001243111.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375016",
      "coordinates": [
        {
          "allele": "C",
          "end": 1890,
          "referenceAllele": "T",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.1432T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ser478Pro",
        "hgvsWellDefined": "NP_001243112.1:p.Ser478Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}