{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA182179",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=115776[alleleid]",
        "alleleId": 115776,
        "preferredName": "NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/110040",
        "RCV": [
          "RCV000488366",
          "RCV001151340",
          "RCV000155106",
          "RCV002483173"
        ],
        "variationId": 110040
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-89953850-G-A",
        "id": "5-89953850-G-A",
        "variant": "5:89953850 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.89953850G>A?assembly=hg19",
        "id": "chr5:g.89953850G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90658033G>A?assembly=hg38",
        "id": "chr5:g.90658033G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201391886",
        "rs": 201391886
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-89953850-G-A?dataset=gnomad_r2_1",
        "id": "5-89953850-G-A",
        "variant": "5:89953850 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90658033-G-A?dataset=gnomad_r3",
        "id": "5-90658033-G-A",
        "variant": "5:90658033 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90658033-G-A?dataset=gnomad_r4",
        "id": "5-90658033-G-A",
        "variant": "5:90658033 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90658033,
          "referenceAllele": "G",
          "start": 90658032
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90658033G>A",
        "CM000667.2:g.90658033G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 89953850,
          "referenceAllele": "G",
          "start": 89953849
        }
      ],
      "hgvs": [
        "NC_000005.9:g.89953850G>A",
        "CM000667.1:g.89953850G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 89989606,
          "referenceAllele": "G",
          "start": 89989605
        }
      ],
      "hgvs": [
        "NC_000005.8:g.89989606G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104234,
          "referenceAllele": "G",
          "start": 104233
        }
      ],
      "hgvs": [
        "NG_007083.1:g.104234G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133690,
          "referenceAllele": "G",
          "start": 133689
        }
      ],
      "hgvs": [
        "NG_007083.2:g.133690G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4606,
          "referenceAllele": "G",
          "start": 4605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ala1503Thr",
        "hgvsWellDefined": "ENSP00000384582.2:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.4507G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.4507G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ala1503Thr"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ala1503Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639676.1:n.2105G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2406,
          "referenceAllele": "G",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640403.1:c.1798G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492531.1:p.Ala600Thr",
        "hgvsWellDefined": "ENSP00000492531.1:p.Ala600Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "G",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ala1503Thr",
        "hgvsWellDefined": "ENSP00000384582.2:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182180",
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "G",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ala1503Thr",
        "hgvsWellDefined": "NP_115495.3:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4603,
          "referenceAllele": "G",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.4603G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4598,
          "referenceAllele": "G",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_011541977.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4598,
          "referenceAllele": "G",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_011541978.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2417,
          "referenceAllele": "G",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.1810G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Ala604Thr",
        "hgvsWellDefined": "XP_011541979.1:p.Ala604Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4598,
          "referenceAllele": "G",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_011541980.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4600,
          "referenceAllele": "G",
          "start": 4599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543679.1:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541981.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_011541981.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182180",
      "coordinates": [
        {
          "allele": "A",
          "end": 4606,
          "referenceAllele": "G",
          "start": 4605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ala1503Thr",
        "hgvsWellDefined": "NP_115495.3:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.4507G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.4507G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ala1503Thr"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ala1503Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865452.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865453.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4604,
          "referenceAllele": "G",
          "start": 4603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.4504G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Ala1502Thr",
        "hgvsWellDefined": "XP_016865454.1:p.Ala1502Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865455.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4511,
          "referenceAllele": "G",
          "start": 4510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.4411G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Ala1471Thr",
        "hgvsWellDefined": "XP_016865456.1:p.Ala1471Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865457.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865458.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865459.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865460.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4599,
          "referenceAllele": "G",
          "start": 4598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009974.2:c.4507G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865463.1:p.Ala1503Thr",
        "hgvsWellDefined": "XP_016865463.1:p.Ala1503Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4606,
          "referenceAllele": "G",
          "start": 4605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.4606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}