{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8242812",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.1295C>T (p.Thr432Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3010309[alleleid]",
        "alleleId": 3010309,
        "preferredName": "NM_013275.6(ANKRD11):c.1295C>T (p.Thr432Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2852666",
        "RCV": [
          "RCV003640451"
        ],
        "variationId": 2852666
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89351655-G-A",
        "id": "16-89351655-G-A",
        "variant": "16:89351655 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89351655G>A?assembly=hg19",
        "id": "chr16:g.89351655G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89285247G>A?assembly=hg38",
        "id": "chr16:g.89285247G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148472572",
        "rs": 148472572
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89351655-G-A?dataset=gnomad_r2_1",
        "id": "16-89351655-G-A",
        "variant": "16:89351655 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89285247-G-A?dataset=gnomad_r3",
        "id": "16-89285247-G-A",
        "variant": "16:89285247 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89285247-G-A?dataset=gnomad_r4",
        "id": "16-89285247-G-A",
        "variant": "16:89285247 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89285247,
          "referenceAllele": "G",
          "start": 89285246
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89285247G>A",
        "CM000678.2:g.89285247G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89351655,
          "referenceAllele": "G",
          "start": 89351654
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89351655G>A",
        "CM000678.1:g.89351655G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87879156,
          "referenceAllele": "G",
          "start": 87879155
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87879156G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210315,
          "referenceAllele": "C",
          "start": 210314
        }
      ],
      "hgvs": [
        "NG_032003.1:g.210315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 210315,
          "referenceAllele": "C",
          "start": 210314
        }
      ],
      "hgvs": [
        "NG_032003.2:g.210315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Thr432Met",
        "hgvsWellDefined": "ENSP00000301030.4:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.1295C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.1295C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Thr432Met"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Thr432Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*1098C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1586,
          "referenceAllele": "C",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Thr432Met",
        "hgvsWellDefined": "ENSP00000367581.2:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000568100.2:n.1001C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642443.1:c.920C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493644.1:p.Thr307Met",
        "hgvsWellDefined": "ENSP00000493644.1:p.Thr307Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Thr432Met",
        "hgvsWellDefined": "ENSP00000495226.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "endIntronDirection": "+",
          "endIntronOffset": 3281,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "+",
          "startIntronOffset": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.744+3281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.744+3281C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3067,
          "referenceAllele": "C",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000645212.1:n.3067C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000646345.1:n.1287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Thr432Met",
        "hgvsWellDefined": "ENSP00000301030.4:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*1098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*1098C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Thr432Met",
        "hgvsWellDefined": "ENSP00000367581.2:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 3281,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.151+3281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000568100.1:n.846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000613312.4:c.*193C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478018.1:n.*193C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373142",
      "coordinates": [
        {
          "allele": "T",
          "end": 1827,
          "referenceAllele": "C",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Thr432Met",
        "hgvsWellDefined": "NP_001243111.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374981",
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Thr432Met",
        "hgvsWellDefined": "NP_001243112.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741936030",
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Thr432Met",
        "hgvsWellDefined": "NP_037407.4:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1533,
          "referenceAllele": "C",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Thr398Met",
        "hgvsWellDefined": "XP_006721244.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.998C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Thr333Met",
        "hgvsWellDefined": "XP_006721247.1:p.Thr333Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1813,
          "referenceAllele": "C",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521353.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521354.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521355.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Thr398Met",
        "hgvsWellDefined": "XP_011521356.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Thr398Met",
        "hgvsWellDefined": "XP_011521357.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "C",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.1166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Thr389Met",
        "hgvsWellDefined": "XP_011521358.1:p.Thr389Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1768,
          "referenceAllele": "C",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521359.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1817,
          "referenceAllele": "C",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521353.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521355.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Thr398Met",
        "hgvsWellDefined": "XP_011521356.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "C",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Thr398Met",
        "hgvsWellDefined": "XP_011521357.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.1166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Thr389Met",
        "hgvsWellDefined": "XP_011521358.1:p.Thr389Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Thr432Met",
        "hgvsWellDefined": "XP_011521359.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2303,
          "referenceAllele": "C",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Thr432Met",
        "hgvsWellDefined": "XP_016878671.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1925,
          "referenceAllele": "C",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Thr432Met",
        "hgvsWellDefined": "XP_016878672.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Thr432Met",
        "hgvsWellDefined": "XP_016878673.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Thr432Met",
        "hgvsWellDefined": "XP_016878674.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Thr432Met",
        "hgvsWellDefined": "XP_016878675.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1651,
          "referenceAllele": "C",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Thr432Met",
        "hgvsWellDefined": "XP_016878676.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1833,
          "referenceAllele": "C",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.1193C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Thr398Met",
        "hgvsWellDefined": "XP_024306012.1:p.Thr398Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741936030",
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Thr432Met",
        "hgvsWellDefined": "NP_037407.4:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.1295C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.1295C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Thr432Met"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Thr432Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373142",
      "coordinates": [
        {
          "allele": "T",
          "end": 1827,
          "referenceAllele": "C",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Thr432Met",
        "hgvsWellDefined": "NP_001243111.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374981",
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.1295C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Thr432Met",
        "hgvsWellDefined": "NP_001243112.1:p.Thr432Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}