{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128850",
  "communityStandardTitle": [
    "NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38992[alleleid]",
        "alleleId": 38992,
        "preferredName": "NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30037",
        "RCV": [
          "RCV000022937"
        ],
        "variationId": 30037
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.58511682A>C?assembly=hg19",
        "id": "chr5:g.58511682A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.59215856A>C?assembly=hg38",
        "id": "chr5:g.59215856A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514466",
        "rs": 397514466
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 59215856,
          "referenceAllele": "A",
          "start": 59215855
        }
      ],
      "hgvs": [
        "NC_000005.10:g.59215856A>C",
        "CM000667.2:g.59215856A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 58511682,
          "referenceAllele": "A",
          "start": 58511681
        }
      ],
      "hgvs": [
        "NC_000005.9:g.58511682A>C",
        "CM000667.1:g.58511682A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 58547439,
          "referenceAllele": "A",
          "start": 58547438
        }
      ],
      "hgvs": [
        "NC_000005.8:g.58547439A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1277244,
          "referenceAllele": "T",
          "start": 1277243
        }
      ],
      "hgvs": [
        "NG_027957.1:g.1277244T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1313474,
          "referenceAllele": "T",
          "start": 1313473
        }
      ],
      "hgvs": [
        "NG_027957.2:g.1313474T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616278"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000507116.6:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424852.1:p.Ser126Ala",
        "hgvsWellDefined": "ENSP00000424852.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "T",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000340635.11:c.568T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345502.6:p.Ser190Ala",
        "hgvsWellDefined": "ENSP00000345502.6:p.Ser190Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340635.11:c.568T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001104631.2:c.568T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345502.6:p.Ser190Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001098101.1:p.Ser190Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "T",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000636120.1:c.238T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490821.1:p.Ser80Ala",
        "hgvsWellDefined": "ENSP00000490821.1:p.Ser80Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "T",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000638939.1:c.133T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492052.1:p.Ser45Ala",
        "hgvsWellDefined": "ENSP00000492052.1:p.Ser45Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "referenceAllele": "T",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000309641.10:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308485.6:p.Ser126Ala",
        "hgvsWellDefined": "ENSP00000308485.6:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "T",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000340635.10:c.568T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345502.6:p.Ser190Ala",
        "hgvsWellDefined": "ENSP00000345502.6:p.Ser190Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "referenceAllele": "T",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000360047.9:c.160T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353152.5:p.Ser54Ala",
        "hgvsWellDefined": "ENSP00000353152.5:p.Ser54Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000405053.7:n.231T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS280236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "T",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000405755.6:c.202T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384806.2:p.Ser68Ala",
        "hgvsWellDefined": "ENSP00000384806.2:p.Ser68Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000502484.6:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423094.2:p.Ser129Ala",
        "hgvsWellDefined": "ENSP00000423094.2:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "T",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000502575.1:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425917.1:p.Ser126Ala",
        "hgvsWellDefined": "ENSP00000425917.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "T",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000503258.5:c.178T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425605.1:p.Ser60Ala",
        "hgvsWellDefined": "ENSP00000425605.1:p.Ser60Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 176884,
          "referenceAllele": "T",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 176885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000505453.1:c.-98-176885T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421013.1:n.-98-176885T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000507116.5:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424852.1:p.Ser126Ala",
        "hgvsWellDefined": "ENSP00000424852.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "T",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000514231.1:n.331T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "T",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000515324.1:n.80T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 209,
          "referenceAllele": "T",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000546160.5:c.175T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442734.2:p.Ser59Ala",
        "hgvsWellDefined": "ENSP00000442734.2:p.Ser59Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "referenceAllele": "T",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "ENST00000621323.4:n.113T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100188",
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "T",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001104631.1:c.568T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098101.1:p.Ser190Ala",
        "hgvsWellDefined": "NP_001098101.1:p.Ser190Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128851",
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "T",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001165899.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159371.1:p.Ser129Ala",
        "hgvsWellDefined": "NP_001159371.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826220219",
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "T",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197218.1:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184147.1:p.Ser126Ala",
        "hgvsWellDefined": "NP_001184147.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826220385",
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "T",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197219.1:c.202T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184148.1:p.Ser68Ala",
        "hgvsWellDefined": "NP_001184148.1:p.Ser68Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826220552",
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "T",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197220.1:c.178T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184149.1:p.Ser60Ala",
        "hgvsWellDefined": "NP_001184149.1:p.Ser60Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829637042",
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "referenceAllele": "T",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_006203.4:c.160T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006194.2:p.Ser54Ala",
        "hgvsWellDefined": "NP_006194.2:p.Ser54Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "T",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_005248537.2:c.238T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248594.1:p.Ser80Ala",
        "hgvsWellDefined": "XP_005248594.1:p.Ser80Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "referenceAllele": "T",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_005248538.3:c.160T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248595.1:p.Ser54Ala",
        "hgvsWellDefined": "XP_005248595.1:p.Ser54Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 720,
          "referenceAllele": "T",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543469.1:c.532T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541771.1:p.Ser178Ala",
        "hgvsWellDefined": "XP_011541771.1:p.Ser178Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "T",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543470.1:c.532T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541772.1:p.Ser178Ala",
        "hgvsWellDefined": "XP_011541772.1:p.Ser178Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "T",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543471.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541773.1:p.Ser129Ala",
        "hgvsWellDefined": "XP_011541773.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "T",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543472.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541774.1:p.Ser129Ala",
        "hgvsWellDefined": "XP_011541774.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543473.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541775.1:p.Ser129Ala",
        "hgvsWellDefined": "XP_011541775.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "T",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543474.1:c.355T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541776.1:p.Ser119Ala",
        "hgvsWellDefined": "XP_011541776.1:p.Ser119Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217,
          "referenceAllele": "T",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543475.1:c.202T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541777.1:p.Ser68Ala",
        "hgvsWellDefined": "XP_011541777.1:p.Ser68Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543476.1:c.148T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541778.1:p.Ser50Ala",
        "hgvsWellDefined": "XP_011541778.1:p.Ser50Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "T",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543477.1:c.127T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541779.1:p.Ser43Ala",
        "hgvsWellDefined": "XP_011541779.1:p.Ser43Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1620,
          "referenceAllele": "T",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543478.1:c.64T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541780.1:p.Ser22Ala",
        "hgvsWellDefined": "XP_011541780.1:p.Ser22Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 136,
          "referenceAllele": "T",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543479.1:c.64T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541781.1:p.Ser22Ala",
        "hgvsWellDefined": "XP_011541781.1:p.Ser22Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827472698",
      "coordinates": [
        {
          "allele": "G",
          "end": 704,
          "referenceAllele": "T",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349241.1:c.355T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336170.1:p.Ser119Ala",
        "hgvsWellDefined": "NP_001336170.1:p.Ser119Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030122",
      "coordinates": [
        {
          "allele": "G",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349242.1:c.238T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336171.1:p.Ser80Ala",
        "hgvsWellDefined": "NP_001336171.1:p.Ser80Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518550"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 704,
          "referenceAllele": "T",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349243.1:c.-127T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336172.1:n.-127T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151015",
      "coordinates": [
        {
          "allele": "G",
          "end": 622,
          "referenceAllele": "T",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364599.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351528.1:p.Ser129Ala",
        "hgvsWellDefined": "NP_001351528.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151180",
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "T",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364600.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351529.1:p.Ser129Ala",
        "hgvsWellDefined": "NP_001351529.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151226",
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364601.1:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351530.1:p.Ser126Ala",
        "hgvsWellDefined": "NP_001351530.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151252",
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364602.1:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351531.1:p.Ser126Ala",
        "hgvsWellDefined": "NP_001351531.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364603.1:c.-383T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351532.1:n.-383T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "T",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364604.1:c.-127T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351533.1:n.-127T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "T",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543470.2:c.532T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541772.1:p.Ser178Ala",
        "hgvsWellDefined": "XP_011541772.1:p.Ser178Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_011543471.2:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541773.1:p.Ser129Ala",
        "hgvsWellDefined": "XP_011541773.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555226"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009565.1:c.532T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865054.1:p.Ser178Ala",
        "hgvsWellDefined": "XP_016865054.1:p.Ser178Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 647,
          "referenceAllele": "T",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009566.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865055.1:p.Ser129Ala",
        "hgvsWellDefined": "XP_016865055.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "T",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_017009567.1:c.370T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865056.1:p.Ser124Ala",
        "hgvsWellDefined": "XP_016865056.1:p.Ser124Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2900,
          "referenceAllele": "T",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_024446110.1:c.532T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301878.1:p.Ser178Ala",
        "hgvsWellDefined": "XP_024301878.1:p.Ser178Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2753,
          "referenceAllele": "T",
          "start": 2752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "XM_024446112.1:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301880.1:p.Ser129Ala",
        "hgvsWellDefined": "XP_024301880.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100188",
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "T",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001104631.2:c.568T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001098101.1:p.Ser190Ala",
        "hgvsWellDefined": "NP_001098101.1:p.Ser190Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340635.11:c.568T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001104631.2:c.568T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345502.6:p.Ser190Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001098101.1:p.Ser190Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA128851",
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "T",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001165899.2:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159371.1:p.Ser129Ala",
        "hgvsWellDefined": "NP_001159371.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678428"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826220219",
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197218.2:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184147.1:p.Ser126Ala",
        "hgvsWellDefined": "NP_001184147.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826220385",
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "T",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197219.2:c.202T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184148.1:p.Ser68Ala",
        "hgvsWellDefined": "NP_001184148.1:p.Ser68Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826220552",
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "T",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001197220.2:c.178T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184149.1:p.Ser60Ala",
        "hgvsWellDefined": "NP_001184149.1:p.Ser60Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827472698",
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349241.2:c.355T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336170.1:p.Ser119Ala",
        "hgvsWellDefined": "NP_001336170.1:p.Ser119Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349243.2:c.-127T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336172.1:n.-127T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687899"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151180",
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "T",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364600.2:c.385T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351529.1:p.Ser129Ala",
        "hgvsWellDefined": "NP_001351529.1:p.Ser129Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828151252",
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001364602.2:c.376T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351531.1:p.Ser126Ala",
        "hgvsWellDefined": "NP_001351531.1:p.Ser126Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030122",
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "T",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_001349242.2:c.238T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336171.1:p.Ser80Ala",
        "hgvsWellDefined": "NP_001336171.1:p.Ser80Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829637042",
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "referenceAllele": "T",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008783",
      "geneNCBI_id": 5144,
      "geneSymbol": "PDE4D",
      "hgvs": [
        "NM_006203.5:c.160T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006194.2:p.Ser54Ala",
        "hgvsWellDefined": "NP_006194.2:p.Ser54Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727706"
    }
  ],
  "type": "nucleotide"
}