{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA321485299",
  "communityStandardTitle": [
    "NC_000021.9:g.44195678G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.44195678G>A?assembly=hg38",
        "id": "chr21:g.44195678G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762421",
        "rs": 762421
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44195678-G-A?dataset=gnomad_r3",
        "id": "21-44195678-G-A",
        "variant": "21:44195678 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-44195678-G-A?dataset=gnomad_r4",
        "id": "21-44195678-G-A",
        "variant": "21:44195678 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 44195678,
          "referenceAllele": "G",
          "start": 44195677
        }
      ],
      "hgvs": [
        "NC_000021.9:g.44195678G>A",
        "CM000683.2:g.44195678G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "endIntronDirection": "-",
          "endIntronOffset": 6371,
          "referenceAllele": "G",
          "start": 516,
          "startIntronDirection": "-",
          "startIntronOffset": 6372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001273",
      "geneNCBI_id": 8209,
      "geneSymbol": "GATD3",
      "hgvs": [
        "ENST00000644251.1:c.429-6372G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495305.1:n.429-6372G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 1492,
          "referenceAllele": "G",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001273",
      "geneNCBI_id": 8209,
      "geneSymbol": "GATD3",
      "hgvs": [
        "ENST00000645487.1:c.*202-1493G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494347.1:n.*202-1493G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "endIntronDirection": "-",
          "endIntronOffset": 12234,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "-",
          "startIntronOffset": 12235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001273",
      "geneNCBI_id": 8209,
      "geneSymbol": "GATD3",
      "hgvs": [
        "ENST00000646873.1:c.313-12235G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769109"
    }
  ],
  "type": "nucleotide"
}