{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8922858",
  "communityStandardTitle": [
    "NM_031422.6(CHST9):c.784G>A (p.Asp262Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2211535[alleleid]",
        "alleleId": 2211535,
        "preferredName": "NM_031422.6(CHST9):c.784G>A (p.Asp262Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224227",
        "RCV": [
          "RCV004084442"
        ],
        "variationId": 2224227
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-24496771-C-T",
        "id": "18-24496771-C-T",
        "variant": "18:24496771 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.24496771C>T?assembly=hg19",
        "id": "chr18:g.24496771C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.26916807C>T?assembly=hg38",
        "id": "chr18:g.26916807C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/202195414",
        "rs": 202195414
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-24496771-C-T?dataset=gnomad_r2_1",
        "id": "18-24496771-C-T",
        "variant": "18:24496771 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-26916807-C-T?dataset=gnomad_r3",
        "id": "18-26916807-C-T",
        "variant": "18:26916807 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-26916807-C-T?dataset=gnomad_r4",
        "id": "18-26916807-C-T",
        "variant": "18:26916807 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 26916807,
          "referenceAllele": "C",
          "start": 26916806
        }
      ],
      "hgvs": [
        "NC_000018.10:g.26916807C>T",
        "CM000680.2:g.26916807C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 24496771,
          "referenceAllele": "C",
          "start": 24496770
        }
      ],
      "hgvs": [
        "NC_000018.9:g.24496771C>T",
        "CM000680.1:g.24496771C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 22750769,
          "referenceAllele": "C",
          "start": 22750768
        }
      ],
      "hgvs": [
        "NC_000018.8:g.22750769C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273519,
          "referenceAllele": "G",
          "start": 273518
        }
      ],
      "hgvs": [
        "NG_029856.1:g.273519G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "ENST00000618847.5:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480991.1:p.Asp262Asn",
        "hgvsWellDefined": "ENSP00000480991.1:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762200",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000618847.5:c.784G>A"
          },
          "RefSeq": {
            "hgvs": "NM_031422.6:c.784G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480991.1:p.Asp262Asn"
          },
          "RefSeq": {
            "hgvs": "NP_113610.2:p.Asp262Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "ENST00000284224.9:c.529G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284224.9:p.Asp177Asn",
        "hgvsWellDefined": "ENSP00000284224.9:p.Asp177Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "ENST00000580774.2:c.*521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464655.1:n.*521G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "referenceAllele": "G",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "ENST00000581714.5:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462852.1:p.Asp262Asn",
        "hgvsWellDefined": "ENSP00000462852.1:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1062,
          "referenceAllele": "G",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "ENST00000618847.4:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480991.1:p.Asp262Asn",
        "hgvsWellDefined": "ENSP00000480991.1:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "NM_001256316.1:c.*521G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243245.1:n.*521G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019179"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580480700",
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "NM_031422.5:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_113610.2:p.Asp262Asn",
        "hgvsWellDefined": "NP_113610.2:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038623"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 7952,
          "referenceAllele": "C",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 7953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026399",
      "geneNCBI_id": 147429,
      "geneSymbol": "AQP4-AS1",
      "hgvs": [
        "NR_026908.1:n.176-7953C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "XM_005258362.2:c.529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258419.1:p.Asp177Asn",
        "hgvsWellDefined": "XP_005258419.1:p.Asp177Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "G",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "XM_011526224.1:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524526.1:p.Asp205Asn",
        "hgvsWellDefined": "XP_011524526.1:p.Asp205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "XM_011526225.1:c.583G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524527.1:p.Asp195Asn",
        "hgvsWellDefined": "XP_011524527.1:p.Asp195Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "XM_005258362.4:c.529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258419.1:p.Asp177Asn",
        "hgvsWellDefined": "XP_005258419.1:p.Asp177Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "XM_017026033.1:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881522.1:p.Asp262Asn",
        "hgvsWellDefined": "XP_016881522.1:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "XM_017026034.1:c.613G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881523.1:p.Asp205Asn",
        "hgvsWellDefined": "XP_016881523.1:p.Asp205Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576254"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580480700",
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "NM_031422.6:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_113610.2:p.Asp262Asn",
        "hgvsWellDefined": "NP_113610.2:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000618847.5:c.784G>A"
          },
          "RefSeq": {
            "hgvs": "NM_031422.6:c.784G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480991.1:p.Asp262Asn"
          },
          "RefSeq": {
            "hgvs": "NP_113610.2:p.Asp262Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "NM_001256316.2:c.*521G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243245.1:n.*521G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829285943",
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "referenceAllele": "G",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019898",
      "geneNCBI_id": 83539,
      "geneSymbol": "CHST9",
      "hgvs": [
        "NM_001398493.1:c.784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001385422.1:p.Asp262Asn",
        "hgvsWellDefined": "NP_001385422.1:p.Asp262Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783219"
    }
  ],
  "type": "nucleotide"
}