{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14447277",
  "communityStandardTitle": [
    "NC_000017.11:g.29590753A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.27917771A>G?assembly=hg19",
        "id": "chr17:g.27917771A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.29590753A>G?assembly=hg38",
        "id": "chr17:g.29590753A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3110496",
        "rs": 3110496
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-27917771-A-G?dataset=gnomad_r2_1",
        "id": "17-27917771-A-G",
        "variant": "17:27917771 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-29590753-A-G?dataset=gnomad_r3",
        "id": "17-29590753-A-G",
        "variant": "17:29590753 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-29590753-A-G?dataset=gnomad_r4",
        "id": "17-29590753-A-G",
        "variant": "17:29590753 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 29590753,
          "referenceAllele": "A",
          "start": 29590752
        }
      ],
      "hgvs": [
        "NC_000017.11:g.29590753A>G",
        "CM000679.2:g.29590753A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 27917771,
          "referenceAllele": "A",
          "start": 27917770
        }
      ],
      "hgvs": [
        "NC_000017.10:g.27917771A>G",
        "CM000679.1:g.27917771A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 24941897,
          "referenceAllele": "A",
          "start": 24941896
        }
      ],
      "hgvs": [
        "NC_000017.9:g.24941897A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 891,
          "referenceAllele": "A",
          "start": 80,
          "startIntronDirection": "+",
          "startIntronOffset": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026363",
      "geneNCBI_id": 124930,
      "geneSymbol": "ANKRD13B",
      "hgvs": [
        "ENST00000487527.5:n.80+891A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 3189,
          "referenceAllele": "T",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004272",
      "geneNCBI_id": 28964,
      "geneSymbol": "GIT1",
      "hgvs": [
        "ENST00000583413.4:c.88+3189T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466824.1:n.88+3189T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 891,
          "referenceAllele": "A",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026363",
      "geneNCBI_id": 124930,
      "geneSymbol": "ANKRD13B",
      "hgvs": [
        "ENST00000583728.5:c.-283+891A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467078.1:n.-283+891A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387881"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 891,
          "referenceAllele": "A",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026363",
      "geneNCBI_id": 124930,
      "geneSymbol": "ANKRD13B",
      "hgvs": [
        "XM_017024174.2:c.-283+891A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879663.1:n.-283+891A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574789"
    }
  ],
  "type": "nucleotide"
}