{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1951488311",
  "communityStandardTitle": [
    "NM_015213.4(DENND5A):c.1622A= (p.Asp541=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519309",
        "rs": 1057519309
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 9178907,
          "referenceAllele": "T",
          "start": 9178906
        }
      ],
      "hgvs": [
        "NC_000011.10:g.9178907T=",
        "CM000673.2:g.9178907T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 9200454,
          "referenceAllele": "T",
          "start": 9200453
        }
      ],
      "hgvs": [
        "NC_000011.9:g.9200454T=",
        "CM000673.1:g.9200454T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 9157030,
          "referenceAllele": "T",
          "start": 9157029
        }
      ],
      "hgvs": [
        "NC_000011.8:g.9157030T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91429,
          "referenceAllele": "A",
          "start": 91428
        }
      ],
      "hgvs": [
        "NG_053019.1:g.91429A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617326"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000328194.8:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328524.3:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746891",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328194.8:c.1622A="
          },
          "RefSeq": {
            "hgvs": "NM_015213.4:c.1622A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328524.3:p.Asp541="
          },
          "RefSeq": {
            "hgvs": "NP_056028.2:p.Asp541="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1690,
          "referenceAllele": "A",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000530780.2:c.*1448A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433925.1:n.*1448A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000530867.2:n.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "A",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679446.1:n.1543A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679460.1:n.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679568.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505860.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679745.1:n.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "referenceAllele": "A",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000679999.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505198.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680252.1:c.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680294.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506113.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 921,
          "referenceAllele": "A",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680358.1:n.921A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680470.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505975.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "A",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680554.1:c.1334A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505621.1:p.Asp445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680576.1:n.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1539,
          "referenceAllele": "A",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680599.1:n.1539A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1672,
          "referenceAllele": "A",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680742.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505206.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "A",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000680885.1:n.1543A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681158.1:c.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681173.1:n.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "A",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681203.1:c.1550A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506456.1:p.Asp517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "A",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681425.1:n.1543A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000681915.1:n.1411A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "referenceAllele": "A",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000328194.7:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328524.3:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000526707.5:c.1550A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436780.1:p.Asp517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11,
          "referenceAllele": "A",
          "start": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000527896.1:c.11A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434397.1:p.Asp4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1640,
          "referenceAllele": "A",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000530044.5:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435866.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "ENST00000530867.1:n.43A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001243254.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230183.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078343274",
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_015213.3:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "NP_056028.2:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "A",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XM_005252832.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252889.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XM_011519952.1:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518254.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_242782.2:n.1887A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_930851.1:n.1887A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_930852.1:n.1887A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1887,
          "referenceAllele": "A",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "XR_930853.1:n.1887A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348749.1:c.1550A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335678.1:p.Asp517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1915,
          "referenceAllele": "A",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348750.1:c.1334A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335679.1:p.Asp445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NR_145966.2:n.1879A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078343274",
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_015213.4:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "NP_056028.2:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328194.8:c.1622A="
          },
          "RefSeq": {
            "hgvs": "NM_015213.4:c.1622A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328524.3:p.Asp541="
          },
          "RefSeq": {
            "hgvs": "NP_056028.2:p.Asp541="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001243254.2:c.1622A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230183.1:p.Asp541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1831,
          "referenceAllele": "A",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348749.2:c.1550A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335678.1:p.Asp517="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1939,
          "referenceAllele": "A",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019344",
      "geneNCBI_id": 23258,
      "geneSymbol": "DENND5A",
      "hgvs": [
        "NM_001348750.2:c.1334A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001335679.1:p.Asp445="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687763"
    }
  ],
  "type": "nucleotide"
}