{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA182202",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174468[alleleid]",
        "alleleId": 174468,
        "preferredName": "NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178372",
        "RCV": [
          "RCV000155118",
          "RCV000724031",
          "RCV001157635",
          "RCV003988829"
        ],
        "variationId": 178372
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-90119357-A-G",
        "id": "5-90119357-A-G",
        "variant": "5:90119357 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90119357A>G?assembly=hg19",
        "id": "chr5:g.90119357A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90823540A>G?assembly=hg38",
        "id": "chr5:g.90823540A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201890097",
        "rs": 201890097
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90119357-A-G?dataset=gnomad_r2_1",
        "id": "5-90119357-A-G",
        "variant": "5:90119357 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90823540-A-G?dataset=gnomad_r3",
        "id": "5-90823540-A-G",
        "variant": "5:90823540 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90823540-A-G?dataset=gnomad_r4",
        "id": "5-90823540-A-G",
        "variant": "5:90823540 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 90823540,
          "referenceAllele": "A",
          "start": 90823539
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90823540A>G",
        "CM000667.2:g.90823540A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 90119357,
          "referenceAllele": "A",
          "start": 90119356
        }
      ],
      "hgvs": [
        "NC_000005.9:g.90119357A>G",
        "CM000667.1:g.90119357A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 90155113,
          "referenceAllele": "A",
          "start": 90155112
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90155113A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 269741,
          "referenceAllele": "A",
          "start": 269740
        }
      ],
      "hgvs": [
        "NG_007083.1:g.269741A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299197,
          "referenceAllele": "A",
          "start": 299196
        }
      ],
      "hgvs": [
        "NG_007083.2:g.299197A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16411,
          "referenceAllele": "A",
          "start": 16410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.16312A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Thr5438Ala",
        "hgvsWellDefined": "ENSP00000384582.2:p.Thr5438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.16312A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.16312A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Thr5438Ala"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Thr5438Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5266,
          "referenceAllele": "A",
          "start": 5265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000425867.3:c.5266A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392618.3:p.Thr1756Ala",
        "hgvsWellDefined": "ENSP00000392618.3:p.Thr1756Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3579,
          "referenceAllele": "A",
          "start": 3578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000638510.1:n.3579A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 147331,
          "referenceAllele": "A",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 147330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+147331A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+147331A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 1358,
          "referenceAllele": "A",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640061.1:n.128+1358A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2722,
          "referenceAllele": "A",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640407.1:c.2722A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491425.1:p.Thr908Ala",
        "hgvsWellDefined": "ENSP00000491425.1:p.Thr908Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16408,
          "referenceAllele": "A",
          "start": 16407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.16312A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Thr5438Ala",
        "hgvsWellDefined": "ENSP00000384582.2:p.Thr5438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3579,
          "referenceAllele": "A",
          "start": 3578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000425867.2:c.3295A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392618.2:p.Thr1099Ala",
        "hgvsWellDefined": "ENSP00000392618.2:p.Thr1099Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182203",
      "coordinates": [
        {
          "allele": "G",
          "end": 16408,
          "referenceAllele": "A",
          "start": 16407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.16312A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Thr5438Ala",
        "hgvsWellDefined": "NP_115495.3:p.Thr5438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16325,
          "referenceAllele": "A",
          "start": 16324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.16325A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16400,
          "referenceAllele": "A",
          "start": 16399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.16309A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Thr5437Ala",
        "hgvsWellDefined": "XP_011541977.1:p.Thr5437Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16322,
          "referenceAllele": "A",
          "start": 16321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.16231A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Thr5411Ala",
        "hgvsWellDefined": "XP_011541978.1:p.Thr5411Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14222,
          "referenceAllele": "A",
          "start": 14221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.13615A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Thr4539Ala",
        "hgvsWellDefined": "XP_011541979.1:p.Thr4539Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182203",
      "coordinates": [
        {
          "allele": "G",
          "end": 16411,
          "referenceAllele": "A",
          "start": 16410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.16312A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Thr5438Ala",
        "hgvsWellDefined": "NP_115495.3:p.Thr5438Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.16312A>G"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.16312A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Thr5438Ala"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Thr5438Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16425,
          "referenceAllele": "A",
          "start": 16424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.16333A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Thr5445Ala",
        "hgvsWellDefined": "XP_016865452.1:p.Thr5445Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16422,
          "referenceAllele": "A",
          "start": 16421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.16330A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Thr5444Ala",
        "hgvsWellDefined": "XP_016865453.1:p.Thr5444Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16430,
          "referenceAllele": "A",
          "start": 16429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.16330A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Thr5444Ala",
        "hgvsWellDefined": "XP_016865454.1:p.Thr5444Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16344,
          "referenceAllele": "A",
          "start": 16343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.16252A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Thr5418Ala",
        "hgvsWellDefined": "XP_016865455.1:p.Thr5418Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16337,
          "referenceAllele": "A",
          "start": 16336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.16237A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Thr5413Ala",
        "hgvsWellDefined": "XP_016865456.1:p.Thr5413Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16245,
          "referenceAllele": "A",
          "start": 16244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.16153A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Thr5385Ala",
        "hgvsWellDefined": "XP_016865457.1:p.Thr5385Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16425,
          "referenceAllele": "A",
          "start": 16424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.16333A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Thr5445Ala",
        "hgvsWellDefined": "XP_016865458.1:p.Thr5445Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9830,
          "referenceAllele": "A",
          "start": 9829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.9451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Thr3151Ala",
        "hgvsWellDefined": "XP_016865461.1:p.Thr3151Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11041,
          "referenceAllele": "A",
          "start": 11040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.9430A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Thr3144Ala",
        "hgvsWellDefined": "XP_016865462.1:p.Thr3144Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16328,
          "referenceAllele": "A",
          "start": 16327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.16328A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}