{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8241913",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.5197G>A (p.Ala1733Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1511485[alleleid]",
        "alleleId": 1511485,
        "preferredName": "NM_013275.6(ANKRD11):c.5197G>A (p.Ala1733Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1463048",
        "RCV": [
          "RCV001960861",
          "RCV002569187"
        ],
        "variationId": 1463048
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89347753-C-T",
        "id": "16-89347753-C-T",
        "variant": "16:89347753 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89347753C>T?assembly=hg19",
        "id": "chr16:g.89347753C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89281345C>T?assembly=hg38",
        "id": "chr16:g.89281345C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780508146",
        "rs": 780508146
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89347753-C-T?dataset=gnomad_r2_1",
        "id": "16-89347753-C-T",
        "variant": "16:89347753 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89281345-C-T?dataset=gnomad_r3",
        "id": "16-89281345-C-T",
        "variant": "16:89281345 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89281345-C-T?dataset=gnomad_r4",
        "id": "16-89281345-C-T",
        "variant": "16:89281345 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89281345,
          "referenceAllele": "C",
          "start": 89281344
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89281345C>T",
        "CM000678.2:g.89281345C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89347753,
          "referenceAllele": "C",
          "start": 89347752
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89347753C>T",
        "CM000678.1:g.89347753C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87875254,
          "referenceAllele": "C",
          "start": 87875253
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87875254C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214217,
          "referenceAllele": "G",
          "start": 214216
        }
      ],
      "hgvs": [
        "NG_032003.1:g.214217G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214217,
          "referenceAllele": "G",
          "start": 214216
        }
      ],
      "hgvs": [
        "NG_032003.2:g.214217G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ala1733Thr",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.5197G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.5197G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ala1733Thr"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ala1733Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5510,
          "referenceAllele": "G",
          "start": 5509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*5000G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5000G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5488,
          "referenceAllele": "G",
          "start": 5487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ala1733Thr",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5573,
          "referenceAllele": "G",
          "start": 5572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Ala1733Thr",
        "hgvsWellDefined": "ENSP00000495226.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 6153,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-6154G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-6154G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ala1733Thr",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5417,
          "referenceAllele": "G",
          "start": 5416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*5000G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5000G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ala1733Thr",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 6153,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 6154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-6154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373937",
      "coordinates": [
        {
          "allele": "A",
          "end": 5729,
          "referenceAllele": "G",
          "start": 5728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ala1733Thr",
        "hgvsWellDefined": "NP_001243111.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375788",
      "coordinates": [
        {
          "allele": "A",
          "end": 5655,
          "referenceAllele": "G",
          "start": 5654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ala1733Thr",
        "hgvsWellDefined": "NP_001243112.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573254338",
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ala1733Thr",
        "hgvsWellDefined": "NP_037407.4:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5435,
          "referenceAllele": "G",
          "start": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.5095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Ala1699Thr",
        "hgvsWellDefined": "XP_006721244.1:p.Ala1699Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5473,
          "referenceAllele": "G",
          "start": 5472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.4900G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Ala1634Thr",
        "hgvsWellDefined": "XP_006721247.1:p.Ala1634Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5715,
          "referenceAllele": "G",
          "start": 5714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521353.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5420,
          "referenceAllele": "G",
          "start": 5419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521354.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5853,
          "referenceAllele": "G",
          "start": 5852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521355.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5768,
          "referenceAllele": "G",
          "start": 5767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.5095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ala1699Thr",
        "hgvsWellDefined": "XP_011521356.1:p.Ala1699Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6041,
          "referenceAllele": "G",
          "start": 6040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.5095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ala1699Thr",
        "hgvsWellDefined": "XP_011521357.1:p.Ala1699Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5790,
          "referenceAllele": "G",
          "start": 5789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.5068G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ala1690Thr",
        "hgvsWellDefined": "XP_011521358.1:p.Ala1690Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5670,
          "referenceAllele": "G",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521359.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5719,
          "referenceAllele": "G",
          "start": 5718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521353.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5824,
          "referenceAllele": "G",
          "start": 5823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521355.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5738,
          "referenceAllele": "G",
          "start": 5737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.5095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ala1699Thr",
        "hgvsWellDefined": "XP_011521356.1:p.Ala1699Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6023,
          "referenceAllele": "G",
          "start": 6022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.5095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ala1699Thr",
        "hgvsWellDefined": "XP_011521357.1:p.Ala1699Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5760,
          "referenceAllele": "G",
          "start": 5759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.5068G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ala1690Thr",
        "hgvsWellDefined": "XP_011521358.1:p.Ala1690Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5641,
          "referenceAllele": "G",
          "start": 5640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_011521359.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6205,
          "referenceAllele": "G",
          "start": 6204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_016878671.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5827,
          "referenceAllele": "G",
          "start": 5826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_016878672.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5824,
          "referenceAllele": "G",
          "start": 5823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_016878673.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5465,
          "referenceAllele": "G",
          "start": 5464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_016878674.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6201,
          "referenceAllele": "G",
          "start": 6200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_016878675.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5553,
          "referenceAllele": "G",
          "start": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Ala1733Thr",
        "hgvsWellDefined": "XP_016878676.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5735,
          "referenceAllele": "G",
          "start": 5734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.5095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Ala1699Thr",
        "hgvsWellDefined": "XP_024306012.1:p.Ala1699Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573254338",
      "coordinates": [
        {
          "allele": "A",
          "end": 5658,
          "referenceAllele": "G",
          "start": 5657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ala1733Thr",
        "hgvsWellDefined": "NP_037407.4:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.5197G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.5197G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ala1733Thr"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ala1733Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373937",
      "coordinates": [
        {
          "allele": "A",
          "end": 5729,
          "referenceAllele": "G",
          "start": 5728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ala1733Thr",
        "hgvsWellDefined": "NP_001243111.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375788",
      "coordinates": [
        {
          "allele": "A",
          "end": 5655,
          "referenceAllele": "G",
          "start": 5654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.5197G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ala1733Thr",
        "hgvsWellDefined": "NP_001243112.1:p.Ala1733Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}