{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951464512",
  "communityStandardTitle": [
    "NM_015213.4(DENND5A):c.2314C= (p.Arg772=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519563",
        "rs": 1057519563
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 9160835,
          "referenceAllele": "G",
          "start": 9160834
        }
      ],
      "hgvs": [
        "NC_000011.10:g.9160835G=",
        "CM000673.2:g.9160835G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 9182382,
          "referenceAllele": "G",
          "start": 9182381
        }
      ],
      "hgvs": [
        "NC_000011.9:g.9182382G=",
        "CM000673.1:g.9182382G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 9138958,
          "referenceAllele": "G",
          "start": 9138957
        }
      ],
      "hgvs": [
        "NC_000011.8:g.9138958G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109501,
          "referenceAllele": "C",
          "start": 109500
        }
      ],
      "hgvs": [
        "NG_053019.1:g.109501C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617326"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2595,
          "referenceAllele": "C",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000328194.8:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328524.3:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746891",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328194.8:c.2314C="
          },
          "RefSeq": {
            "hgvs": "NM_015213.4:c.2314C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328524.3:p.Arg772="
          },
          "RefSeq": {
            "hgvs": "NP_056028.2:p.Arg772="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2382,
          "referenceAllele": "C",
          "start": 2381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000530780.2:c.*2140C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433925.1:n.*2140C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679446.1:n.2235C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3715,
          "referenceAllele": "C",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679458.1:n.3715C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679460.1:n.2103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "C",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679568.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505860.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679745.1:n.2103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679926.1:n.1130C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2332,
          "referenceAllele": "C",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679999.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505198.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680252.1:c.2103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779872"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "C",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680294.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506113.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680358.1:n.1613C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "C",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680470.1:c.*180C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505975.1:n.*180C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2346,
          "referenceAllele": "C",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680554.1:c.2026C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505621.1:p.Arg676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680576.1:n.2103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2231,
          "referenceAllele": "C",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680599.1:n.2231C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "C",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680742.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505206.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680885.1:n.2235C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780499"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681158.1:c.2103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681173.1:n.2103C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681203.1:c.2242C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506456.1:p.Arg748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681425.1:n.2235C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2635,
          "referenceAllele": "C",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000328194.7:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328524.3:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000526707.5:c.2242C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436780.1:p.Arg748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000527700.5:n.1876C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2332,
          "referenceAllele": "C",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000530044.5:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435866.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2571,
          "referenceAllele": "C",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001243254.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230183.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077815011",
      "coordinates": [
        {
          "allele": "C",
          "end": 2571,
          "referenceAllele": "C",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_015213.3:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056028.2:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2580,
          "referenceAllele": "C",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XM_005252832.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252889.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XM_011519952.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518254.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XM_011519953.1:c.412C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518255.1:p.Arg138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_242782.2:n.2579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116360"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_930851.1:n.2579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_930852.1:n.2579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_930853.1:n.2428C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2499,
          "referenceAllele": "C",
          "start": 2498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348749.1:c.2242C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335678.1:p.Arg748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2607,
          "referenceAllele": "C",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348750.1:c.2026C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335679.1:p.Arg676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2571,
          "referenceAllele": "C",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NR_145966.2:n.2571C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077815011",
      "coordinates": [
        {
          "allele": "C",
          "end": 2595,
          "referenceAllele": "C",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_015213.4:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056028.2:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328194.8:c.2314C="
          },
          "RefSeq": {
            "hgvs": "NM_015213.4:c.2314C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328524.3:p.Arg772="
          },
          "RefSeq": {
            "hgvs": "NP_056028.2:p.Arg772="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2595,
          "referenceAllele": "C",
          "start": 2594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001243254.2:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230183.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2523,
          "referenceAllele": "C",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348749.2:c.2242C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335678.1:p.Arg748="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2631,
          "referenceAllele": "C",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348750.2:c.2026C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335679.1:p.Arg676="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687763"
    }
  ],
  "type": "nucleotide"
}