{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8241879",
  "communityStandardTitle": [
    "NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=844494[alleleid]",
        "alleleId": 844494,
        "preferredName": "NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/849681",
        "RCV": [
          "RCV001053696",
          "RCV002348406"
        ],
        "variationId": 849681
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89347635-G-A",
        "id": "16-89347635-G-A",
        "variant": "16:89347635 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89347635G>A?assembly=hg19",
        "id": "chr16:g.89347635G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89281227G>A?assembly=hg38",
        "id": "chr16:g.89281227G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776119333",
        "rs": 776119333
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89347635-G-A?dataset=gnomad_r2_1",
        "id": "16-89347635-G-A",
        "variant": "16:89347635 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89281227-G-A?dataset=gnomad_r3",
        "id": "16-89281227-G-A",
        "variant": "16:89281227 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89281227-G-A?dataset=gnomad_r4",
        "id": "16-89281227-G-A",
        "variant": "16:89281227 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89281227,
          "referenceAllele": "G",
          "start": 89281226
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89281227G>A",
        "CM000678.2:g.89281227G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89347635,
          "referenceAllele": "G",
          "start": 89347634
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89347635G>A",
        "CM000678.1:g.89347635G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87875136,
          "referenceAllele": "G",
          "start": 87875135
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87875136G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214335,
          "referenceAllele": "C",
          "start": 214334
        }
      ],
      "hgvs": [
        "NG_032003.1:g.214335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214335,
          "referenceAllele": "C",
          "start": 214334
        }
      ],
      "hgvs": [
        "NG_032003.2:g.214335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673857"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5776,
          "referenceAllele": "C",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.10:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ser1772Leu",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.5315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.5315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ser1772Leu"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ser1772Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5628,
          "referenceAllele": "C",
          "start": 5627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.10:c.*5118C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5118C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5606,
          "referenceAllele": "C",
          "start": 5605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.7:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ser1772Leu",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5691,
          "referenceAllele": "C",
          "start": 5690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000642600.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495226.1:p.Ser1772Leu",
        "hgvsWellDefined": "ENSP00000495226.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 6035,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 6036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000644285.1:c.745-6036C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496476.1:n.745-6036C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5776,
          "referenceAllele": "C",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000301030.8:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301030.4:p.Ser1772Leu",
        "hgvsWellDefined": "ENSP00000301030.4:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5535,
          "referenceAllele": "C",
          "start": 5534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000330736.9:c.*5118C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330815.5:n.*5118C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5604,
          "referenceAllele": "C",
          "start": 5603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000378330.6:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367581.2:p.Ser1772Leu",
        "hgvsWellDefined": "ENSP00000367581.2:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 6035,
          "referenceAllele": "C",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 6036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "ENST00000562194.1:c.152-6036C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373969",
      "coordinates": [
        {
          "allele": "T",
          "end": 5847,
          "referenceAllele": "C",
          "start": 5846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ser1772Leu",
        "hgvsWellDefined": "NP_001243111.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375820",
      "coordinates": [
        {
          "allele": "T",
          "end": 5773,
          "referenceAllele": "C",
          "start": 5772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ser1772Leu",
        "hgvsWellDefined": "NP_001243112.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139725394",
      "coordinates": [
        {
          "allele": "T",
          "end": 5776,
          "referenceAllele": "C",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.5:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ser1772Leu",
        "hgvsWellDefined": "NP_037407.4:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5553,
          "referenceAllele": "C",
          "start": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721181.1:c.5213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721244.1:p.Ser1738Leu",
        "hgvsWellDefined": "XP_006721244.1:p.Ser1738Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5591,
          "referenceAllele": "C",
          "start": 5590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_006721184.2:c.5018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721247.1:p.Ser1673Leu",
        "hgvsWellDefined": "XP_006721247.1:p.Ser1673Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5833,
          "referenceAllele": "C",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521353.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5538,
          "referenceAllele": "C",
          "start": 5537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523052.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521354.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521354.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5971,
          "referenceAllele": "C",
          "start": 5970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521355.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5886,
          "referenceAllele": "C",
          "start": 5885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.1:c.5213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ser1738Leu",
        "hgvsWellDefined": "XP_011521356.1:p.Ser1738Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6159,
          "referenceAllele": "C",
          "start": 6158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.1:c.5213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ser1738Leu",
        "hgvsWellDefined": "XP_011521357.1:p.Ser1738Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5908,
          "referenceAllele": "C",
          "start": 5907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.1:c.5186C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ser1729Leu",
        "hgvsWellDefined": "XP_011521358.1:p.Ser1729Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5788,
          "referenceAllele": "C",
          "start": 5787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521359.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5837,
          "referenceAllele": "C",
          "start": 5836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523051.3:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521353.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521353.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5942,
          "referenceAllele": "C",
          "start": 5941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523053.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521355.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521355.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5856,
          "referenceAllele": "C",
          "start": 5855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523054.2:c.5213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521356.1:p.Ser1738Leu",
        "hgvsWellDefined": "XP_011521356.1:p.Ser1738Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546878"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6141,
          "referenceAllele": "C",
          "start": 6140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523055.2:c.5213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521357.1:p.Ser1738Leu",
        "hgvsWellDefined": "XP_011521357.1:p.Ser1738Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5878,
          "referenceAllele": "C",
          "start": 5877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523056.2:c.5186C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521358.1:p.Ser1729Leu",
        "hgvsWellDefined": "XP_011521358.1:p.Ser1729Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5759,
          "referenceAllele": "C",
          "start": 5758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_011523057.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521359.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_011521359.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6323,
          "referenceAllele": "C",
          "start": 6322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023182.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878671.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_016878671.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5945,
          "referenceAllele": "C",
          "start": 5944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023183.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878672.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_016878672.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5942,
          "referenceAllele": "C",
          "start": 5941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023184.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878673.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_016878673.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5583,
          "referenceAllele": "C",
          "start": 5582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023185.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878674.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_016878674.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6319,
          "referenceAllele": "C",
          "start": 6318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023186.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878675.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_016878675.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5671,
          "referenceAllele": "C",
          "start": 5670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_017023187.1:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878676.1:p.Ser1772Leu",
        "hgvsWellDefined": "XP_016878676.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5853,
          "referenceAllele": "C",
          "start": 5852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "XM_024450244.1:c.5213C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306012.1:p.Ser1738Leu",
        "hgvsWellDefined": "XP_024306012.1:p.Ser1738Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583785"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139725394",
      "coordinates": [
        {
          "allele": "T",
          "end": 5776,
          "referenceAllele": "C",
          "start": 5775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_013275.6:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_037407.4:p.Ser1772Leu",
        "hgvsWellDefined": "NP_037407.4:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668098",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301030.10:c.5315C>T"
          },
          "RefSeq": {
            "hgvs": "NM_013275.6:c.5315C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301030.4:p.Ser1772Leu"
          },
          "RefSeq": {
            "hgvs": "NP_037407.4:p.Ser1772Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826373969",
      "coordinates": [
        {
          "allele": "T",
          "end": 5847,
          "referenceAllele": "C",
          "start": 5846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256182.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243111.1:p.Ser1772Leu",
        "hgvsWellDefined": "NP_001243111.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826375820",
      "coordinates": [
        {
          "allele": "T",
          "end": 5773,
          "referenceAllele": "C",
          "start": 5772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NM_001256183.2:c.5315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243112.1:p.Ser1772Leu",
        "hgvsWellDefined": "NP_001243112.1:p.Ser1772Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680510"
    }
  ],
  "type": "nucleotide"
}