{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7112057",
  "communityStandardTitle": [
    "NM_020834.3(HOMEZ):c.1505G>A (p.Arg502Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3753900"
      },
      {
        "active": false,
        "id": "COSM3753901"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-23744932-C-T",
        "id": "14-23744932-C-T",
        "variant": "14:23744932 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23744932C>T?assembly=hg19",
        "id": "chr14:g.23744932C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23744932_23744934delinsTGA?assembly=hg19",
        "id": "chr14:g.23744932_23744934delinsTGA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.23275723C>T?assembly=hg38",
        "id": "chr14:g.23275723C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1055061",
        "rs": 1055061
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23744932-C-T?dataset=gnomad_r2_1",
        "id": "14-23744932-C-T",
        "variant": "14:23744932 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23275723-C-T?dataset=gnomad_r3",
        "id": "14-23275723-C-T",
        "variant": "14:23275723 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-23275723-C-T?dataset=gnomad_r4",
        "id": "14-23275723-C-T",
        "variant": "14:23275723 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23275723,
          "referenceAllele": "C",
          "start": 23275722
        }
      ],
      "hgvs": [
        "NC_000014.9:g.23275723C>T",
        "CM000676.2:g.23275723C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23744932,
          "referenceAllele": "C",
          "start": 23744931
        }
      ],
      "hgvs": [
        "NC_000014.8:g.23744932C>T",
        "CM000676.1:g.23744932C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 22814772,
          "referenceAllele": "C",
          "start": 22814771
        }
      ],
      "hgvs": [
        "NC_000014.7:g.22814772C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2019,
          "referenceAllele": "G",
          "start": 2018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020164",
      "geneNCBI_id": 57594,
      "geneSymbol": "HOMEZ",
      "hgvs": [
        "ENST00000561013.3:c.1511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453979.1:p.Arg504Gln",
        "hgvsWellDefined": "ENSP00000453979.1:p.Arg504Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "G",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020164",
      "geneNCBI_id": 57594,
      "geneSymbol": "HOMEZ",
      "hgvs": [
        "ENST00000357460.7:c.1505G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350049.4:p.Arg502Gln",
        "hgvsWellDefined": "ENSP00000350049.4:p.Arg502Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357460.7:c.1505G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020834.3:c.1505G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350049.4:p.Arg502Gln"
          },
          "RefSeq": {
            "hgvs": "NP_065885.2:p.Arg502Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "hgvs": [
        "ENST00000673724.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501153.1:p.Arg391Gln",
        "hgvsWellDefined": "ENSP00000501153.1:p.Arg391Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "hgvs": [
        "ENST00000357460.6:c.1505G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350049.4:p.Arg502Gln",
        "hgvsWellDefined": "ENSP00000350049.4:p.Arg502Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "hgvs": [
        "ENST00000561013.2:c.1511G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453979.1:p.Arg504Gln",
        "hgvsWellDefined": "ENSP00000453979.1:p.Arg504Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081098700",
      "coordinates": [
        {
          "allele": "A",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020164",
      "geneNCBI_id": 57594,
      "geneSymbol": "HOMEZ",
      "hgvs": [
        "NM_020834.2:c.1505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065885.2:p.Arg502Gln",
        "hgvsWellDefined": "NP_065885.2:p.Arg502Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081098700",
      "coordinates": [
        {
          "allele": "A",
          "end": 1685,
          "referenceAllele": "G",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020164",
      "geneNCBI_id": 57594,
      "geneSymbol": "HOMEZ",
      "hgvs": [
        "NM_020834.3:c.1505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065885.2:p.Arg502Gln",
        "hgvsWellDefined": "NP_065885.2:p.Arg502Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357460.7:c.1505G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020834.3:c.1505G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350049.4:p.Arg502Gln"
          },
          "RefSeq": {
            "hgvs": "NP_065885.2:p.Arg502Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}