{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15986897",
  "communityStandardTitle": [
    "NM_001100420.2(C21orf91):c.128-9836G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.19179271C>T?assembly=hg19",
        "id": "chr21:g.19179271C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.17806954C>T?assembly=hg38",
        "id": "chr21:g.17806954C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2824499",
        "rs": 2824499
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-19179271-C-T?dataset=gnomad_r2_1",
        "id": "21-19179271-C-T",
        "variant": "21:19179271 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-17806954-C-T?dataset=gnomad_r3",
        "id": "21-17806954-C-T",
        "variant": "21:17806954 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-17806954-C-T?dataset=gnomad_r4",
        "id": "21-17806954-C-T",
        "variant": "21:17806954 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 17806954,
          "referenceAllele": "C",
          "start": 17806953
        }
      ],
      "hgvs": [
        "NC_000021.9:g.17806954C>T",
        "CM000683.2:g.17806954C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 19179271,
          "referenceAllele": "C",
          "start": 19179270
        }
      ],
      "hgvs": [
        "NC_000021.8:g.19179271C>T",
        "CM000683.1:g.19179271C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 18101142,
          "referenceAllele": "C",
          "start": 18101141
        }
      ],
      "hgvs": [
        "NC_000021.7:g.18101142C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "ENST00000284881.9:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284881.4:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000284881.9:c.128-9836G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001100420.2:c.128-9836G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284881.4:n.128-9836G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001093890.1:n.128-9836G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "ENST00000284881.8:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000284881.4:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "ENST00000400558.7:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383403.3:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279069"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "ENST00000400559.7:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383404.3:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "ENST00000405964.2:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385566.2:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 4402,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 4401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "ENST00000493464.1:n.348+4402G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "NM_001100420.1:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093890.1:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "NM_001100421.1:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093891.1:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "NM_017447.3:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059143.3:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 449,
          "endIntronDirection": "+",
          "endIntronOffset": 3078,
          "referenceAllele": "C",
          "start": 449,
          "startIntronDirection": "+",
          "startIntronOffset": 3077
        }
      ],
      "hgvs": [
        "XR_937601.1:n.449+3078C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "NM_001100420.2:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093890.1:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000284881.9:c.128-9836G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001100420.2:c.128-9836G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000284881.4:n.128-9836G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001093890.1:n.128-9836G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "NM_001100421.2:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093891.1:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "endIntronDirection": "-",
          "endIntronOffset": 9835,
          "referenceAllele": "G",
          "start": 188,
          "startIntronDirection": "-",
          "startIntronOffset": 9836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016459",
      "geneNCBI_id": 54149,
      "geneSymbol": "C21orf91",
      "hgvs": [
        "NM_017447.4:c.128-9836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059143.3:n.128-9836G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697802"
    }
  ],
  "type": "nucleotide"
}