{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14212214",
  "communityStandardTitle": [
    "NC_000016.10:g.11597897T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.11691753T>C?assembly=hg19",
        "id": "chr16:g.11691753T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.11597897T>C?assembly=hg38",
        "id": "chr16:g.11597897T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8049607",
        "rs": 8049607
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-11691753-T-C?dataset=gnomad_r2_1",
        "id": "16-11691753-T-C",
        "variant": "16:11691753 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-11597897-T-C?dataset=gnomad_r3",
        "id": "16-11597897-T-C",
        "variant": "16:11597897 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-11597897-T-C?dataset=gnomad_r4",
        "id": "16-11597897-T-C",
        "variant": "16:11597897 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 11597897,
          "referenceAllele": "T",
          "start": 11597896
        }
      ],
      "hgvs": [
        "NC_000016.10:g.11597897T>C",
        "CM000678.2:g.11597897T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 11691753,
          "referenceAllele": "T",
          "start": 11691752
        }
      ],
      "hgvs": [
        "NC_000016.9:g.11691753T>C",
        "CM000678.1:g.11691753T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 11599254,
          "referenceAllele": "T",
          "start": 11599253
        }
      ],
      "hgvs": [
        "NC_000016.8:g.11599254T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113,
          "endIntronDirection": "+",
          "endIntronOffset": 491,
          "referenceAllele": "A",
          "start": 113,
          "startIntronDirection": "+",
          "startIntronOffset": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000571627.5:c.-6+491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460743.1:n.-6+491A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "endIntronDirection": "+",
          "endIntronOffset": 35636,
          "referenceAllele": "A",
          "start": 375,
          "startIntronDirection": "+",
          "startIntronOffset": 35635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000574848.5:c.85+35636A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459898.1:n.85+35636A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 31226,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 31225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000576036.5:c.-6+31226A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461667.1:n.-6+31226A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "endIntronDirection": "+",
          "endIntronOffset": 35636,
          "referenceAllele": "A",
          "start": 542,
          "startIntronDirection": "+",
          "startIntronOffset": 35635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "ENST00000576334.1:c.85+35636A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458538.1:n.85+35636A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "endIntronDirection": "+",
          "endIntronOffset": 35636,
          "referenceAllele": "A",
          "start": 542,
          "startIntronDirection": "+",
          "startIntronOffset": 35635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_011522754.1:c.85+35636A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521056.1:n.85+35636A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 542,
          "endIntronDirection": "+",
          "endIntronOffset": 35636,
          "referenceAllele": "A",
          "start": 542,
          "startIntronDirection": "+",
          "startIntronOffset": 35635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_011522754.3:c.85+35636A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521056.1:n.85+35636A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 31226,
          "referenceAllele": "A",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 31225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "XM_017023896.1:c.-6+31226A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879385.1:n.-6+31226A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574553"
    }
  ],
  "type": "nucleotide"
}