{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5034619",
  "communityStandardTitle": [
    "NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=684096[alleleid]",
        "alleleId": 684096,
        "preferredName": "NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/697322",
        "RCV": [
          "RCV000864112",
          "RCV001165833"
        ],
        "variationId": 697322
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-34520718-G-A",
        "id": "9-34520718-G-A",
        "variant": "9:34520718 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34520718G>A?assembly=hg19",
        "id": "chr9:g.34520718G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.34520720G>A?assembly=hg38",
        "id": "chr9:g.34520720G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750785483",
        "rs": 750785483
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34520718-G-A?dataset=gnomad_r2_1",
        "id": "9-34520718-G-A",
        "variant": "9:34520718 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34520720-G-A?dataset=gnomad_r3",
        "id": "9-34520720-G-A",
        "variant": "9:34520720 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-34520720-G-A?dataset=gnomad_r4",
        "id": "9-34520720-G-A",
        "variant": "9:34520720 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 34520720,
          "referenceAllele": "G",
          "start": 34520719
        }
      ],
      "hgvs": [
        "NC_000009.12:g.34520720G>A",
        "CM000671.2:g.34520720G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 34520718,
          "referenceAllele": "G",
          "start": 34520717
        }
      ],
      "hgvs": [
        "NC_000009.11:g.34520718G>A",
        "CM000671.1:g.34520718G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 34510718,
          "referenceAllele": "G",
          "start": 34510717
        }
      ],
      "hgvs": [
        "NC_000009.10:g.34510718G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66908,
          "referenceAllele": "G",
          "start": 66907
        }
      ],
      "hgvs": [
        "NG_008127.1:g.66908G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000872"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000242317.9:c.2064G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242317.4:p.Leu688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242317.9:c.2064G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012144.4:c.2064G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242317.4:p.Leu688="
          },
          "RefSeq": {
            "hgvs": "NP_036276.1:p.Leu688="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2235,
          "referenceAllele": "G",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000242317.8:c.2064G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242317.4:p.Leu688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "G",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000442556.1:c.392G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2330,
          "referenceAllele": "G",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "ENST00000614641.4:c.2076G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480538.1:p.Leu692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826622945",
      "coordinates": [
        {
          "allele": "A",
          "end": 2330,
          "referenceAllele": "G",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_001281428.1:c.2076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268357.1:p.Leu692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723404",
      "coordinates": [
        {
          "allele": "A",
          "end": 2318,
          "referenceAllele": "G",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_012144.3:c.2064G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036276.1:p.Leu688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_006716758.2:c.1533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716821.1:p.Leu511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2072,
          "referenceAllele": "G",
          "start": 2071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517848.1:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516150.1:p.Leu606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1961,
          "referenceAllele": "G",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_006716758.3:c.1533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716821.1:p.Leu511="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "G",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_011517848.2:c.1818G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516150.1:p.Leu606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1987,
          "referenceAllele": "G",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XM_017014625.2:c.1806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870114.1:p.Leu602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "XR_002956774.1:n.2167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602912"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829723404",
      "coordinates": [
        {
          "allele": "A",
          "end": 2265,
          "referenceAllele": "G",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_012144.4:c.2064G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036276.1:p.Leu688="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667918",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242317.9:c.2064G>A"
          },
          "RefSeq": {
            "hgvs": "NM_012144.4:c.2064G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242317.4:p.Leu688="
          },
          "RefSeq": {
            "hgvs": "NP_036276.1:p.Leu688="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826622945",
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002954",
      "geneNCBI_id": 27019,
      "geneSymbol": "DNAI1",
      "hgvs": [
        "NM_001281428.2:c.2076G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268357.1:p.Leu692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715686"
    }
  ],
  "type": "nucleotide"
}