{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8241595",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.6088G>A (p.Ala2030Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2202776[alleleid]",
        "alleleId": 2202776,
        "preferredName": "NM_013275.6(ANKRD11):c.6088G>A (p.Ala2030Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2217179",
        "RCV": [
          "RCV002682681",
          "RCV003128962",
          "RCV003526223"
        ],
        "variationId": 2217179
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89346862-C-T",
        "id": "16-89346862-C-T",
        "variant": "16:89346862 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89346862C>T?assembly=hg19",
        "id": "chr16:g.89346862C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89280454C>T?assembly=hg38",
        "id": "chr16:g.89280454C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747661700",
        "rs": 747661700
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89346862-C-T?dataset=gnomad_r2_1",
        "id": "16-89346862-C-T",
        "variant": "16:89346862 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89280454-C-T?dataset=gnomad_r3",
        "id": "16-89280454-C-T",
        "variant": "16:89280454 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89280454-C-T?dataset=gnomad_r4",
        "id": "16-89280454-C-T",
        "variant": "16:89280454 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89280454,
          "referenceAllele": "C",
          "start": 89280453
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89280454C>T",
        "CM000678.2:g.89280454C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89346862,
          "referenceAllele": "C",
          "start": 89346861
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89346862C>T",
        "CM000678.1:g.89346862C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87874363,
          "referenceAllele": "C",
          "start": 87874362
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87874363C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 215108,
          "referenceAllele": "G",
          "start": 215107
        }
      ],
      "hgvs": [
        "NG_032003.1:g.215108G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 215108,
          "referenceAllele": "G",
          "start": 215107
        }
      ],
      "hgvs": [
        "NG_032003.2:g.215108G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6549,
          "referenceAllele": "G",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ala2030Thr",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6088G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6088G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ala2030Thr"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ala2030Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6401,
          "referenceAllele": "G",
          "start": 6400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*5891G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5891G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6379,
          "referenceAllele": "G",
          "start": 6378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ala2030Thr",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6464,
          "referenceAllele": "G",
          "start": 6463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Ala2030Thr",
        "hgvsWellDefined": "ENSP00000495226.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 5262,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-5263G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-5263G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6549,
          "referenceAllele": "G",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ala2030Thr",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6308,
          "referenceAllele": "G",
          "start": 6307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*5891G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5891G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6377,
          "referenceAllele": "G",
          "start": 6376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ala2030Thr",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 5262,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-5263G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374210",
      "coordinates": [
        {
          "allele": "A",
          "end": 6620,
          "referenceAllele": "G",
          "start": 6619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ala2030Thr",
        "hgvsWellDefined": "NP_001243111.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376066",
      "coordinates": [
        {
          "allele": "A",
          "end": 6546,
          "referenceAllele": "G",
          "start": 6545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ala2030Thr",
        "hgvsWellDefined": "NP_001243112.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357207",
      "coordinates": [
        {
          "allele": "A",
          "end": 6549,
          "referenceAllele": "G",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ala2030Thr",
        "hgvsWellDefined": "NP_037407.4:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6326,
          "referenceAllele": "G",
          "start": 6325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.5986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Ala1996Thr",
        "hgvsWellDefined": "XP_006721244.1:p.Ala1996Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6364,
          "referenceAllele": "G",
          "start": 6363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.5791G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Ala1931Thr",
        "hgvsWellDefined": "XP_006721247.1:p.Ala1931Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6606,
          "referenceAllele": "G",
          "start": 6605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521353.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6311,
          "referenceAllele": "G",
          "start": 6310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521354.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6744,
          "referenceAllele": "G",
          "start": 6743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521355.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6659,
          "referenceAllele": "G",
          "start": 6658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.5986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ala1996Thr",
        "hgvsWellDefined": "XP_011521356.1:p.Ala1996Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6932,
          "referenceAllele": "G",
          "start": 6931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.5986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ala1996Thr",
        "hgvsWellDefined": "XP_011521357.1:p.Ala1996Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6681,
          "referenceAllele": "G",
          "start": 6680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.5959G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ala1987Thr",
        "hgvsWellDefined": "XP_011521358.1:p.Ala1987Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6561,
          "referenceAllele": "G",
          "start": 6560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521359.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6610,
          "referenceAllele": "G",
          "start": 6609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521353.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521355.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6629,
          "referenceAllele": "G",
          "start": 6628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.5986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ala1996Thr",
        "hgvsWellDefined": "XP_011521356.1:p.Ala1996Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6914,
          "referenceAllele": "G",
          "start": 6913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.5986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ala1996Thr",
        "hgvsWellDefined": "XP_011521357.1:p.Ala1996Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6651,
          "referenceAllele": "G",
          "start": 6650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.5959G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ala1987Thr",
        "hgvsWellDefined": "XP_011521358.1:p.Ala1987Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6532,
          "referenceAllele": "G",
          "start": 6531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_011521359.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7096,
          "referenceAllele": "G",
          "start": 7095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_016878671.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6718,
          "referenceAllele": "G",
          "start": 6717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_016878672.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6715,
          "referenceAllele": "G",
          "start": 6714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_016878673.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6356,
          "referenceAllele": "G",
          "start": 6355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_016878674.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7092,
          "referenceAllele": "G",
          "start": 7091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_016878675.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6444,
          "referenceAllele": "G",
          "start": 6443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Ala2030Thr",
        "hgvsWellDefined": "XP_016878676.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6626,
          "referenceAllele": "G",
          "start": 6625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.5986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Ala1996Thr",
        "hgvsWellDefined": "XP_024306012.1:p.Ala1996Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357207",
      "coordinates": [
        {
          "allele": "A",
          "end": 6549,
          "referenceAllele": "G",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ala2030Thr",
        "hgvsWellDefined": "NP_037407.4:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.6088G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.6088G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ala2030Thr"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ala2030Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826374210",
      "coordinates": [
        {
          "allele": "A",
          "end": 6620,
          "referenceAllele": "G",
          "start": 6619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ala2030Thr",
        "hgvsWellDefined": "NP_001243111.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826376066",
      "coordinates": [
        {
          "allele": "A",
          "end": 6546,
          "referenceAllele": "G",
          "start": 6545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.6088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ala2030Thr",
        "hgvsWellDefined": "NP_001243112.1:p.Ala2030Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}