{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA182198",
  "communityStandardTitle": [
    "NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174328[alleleid]",
        "alleleId": 174328,
        "preferredName": "NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178370",
        "RCV": [
          "RCV000155116",
          "RCV000724660",
          "RCV002514982"
        ],
        "variationId": 178370
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-90101200-G-A",
        "id": "5-90101200-G-A",
        "variant": "5:90101200 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90101200G>A?assembly=hg19",
        "id": "chr5:g.90101200G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.90805383G>A?assembly=hg38",
        "id": "chr5:g.90805383G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200115167",
        "rs": 200115167
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90101200-G-A?dataset=gnomad_r2_1",
        "id": "5-90101200-G-A",
        "variant": "5:90101200 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90805383-G-A?dataset=gnomad_r3",
        "id": "5-90805383-G-A",
        "variant": "5:90805383 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-90805383-G-A?dataset=gnomad_r4",
        "id": "5-90805383-G-A",
        "variant": "5:90805383 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90805383,
          "referenceAllele": "G",
          "start": 90805382
        }
      ],
      "hgvs": [
        "NC_000005.10:g.90805383G>A",
        "CM000667.2:g.90805383G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90101200,
          "referenceAllele": "G",
          "start": 90101199
        }
      ],
      "hgvs": [
        "NC_000005.9:g.90101200G>A",
        "CM000667.1:g.90101200G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 90136956,
          "referenceAllele": "G",
          "start": 90136955
        }
      ],
      "hgvs": [
        "NC_000005.8:g.90136956G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251584,
          "referenceAllele": "G",
          "start": 251583
        }
      ],
      "hgvs": [
        "NG_007083.1:g.251584G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281040,
          "referenceAllele": "G",
          "start": 281039
        }
      ],
      "hgvs": [
        "NG_007083.2:g.281040G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616065"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14860,
          "referenceAllele": "G",
          "start": 14859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.9:c.14761G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ala4921Thr",
        "hgvsWellDefined": "ENSP00000384582.2:p.Ala4921Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.14761G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.14761G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ala4921Thr"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ala4921Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3715,
          "referenceAllele": "G",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000425867.3:c.3715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392618.3:p.Ala1239Thr",
        "hgvsWellDefined": "ENSP00000392618.3:p.Ala1239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000638510.1:n.2028G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "endIntronDirection": "+",
          "endIntronOffset": 2501,
          "referenceAllele": "G",
          "start": 427,
          "startIntronDirection": "+",
          "startIntronOffset": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000638585.1:n.427+2501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 129174,
          "referenceAllele": "G",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 129173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000639431.1:c.265+129174G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491057.1:n.265+129174G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000640407.1:c.1171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491425.1:p.Ala391Thr",
        "hgvsWellDefined": "ENSP00000491425.1:p.Ala391Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14857,
          "referenceAllele": "G",
          "start": 14856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000405460.6:c.14761G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384582.2:p.Ala4921Thr",
        "hgvsWellDefined": "ENSP00000384582.2:p.Ala4921Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000425867.2:c.1744G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392618.2:p.Ala582Thr",
        "hgvsWellDefined": "ENSP00000392618.2:p.Ala582Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "ENST00000513828.1:n.457G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182199",
      "coordinates": [
        {
          "allele": "A",
          "end": 14857,
          "referenceAllele": "G",
          "start": 14856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.3:c.14761G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ala4921Thr",
        "hgvsWellDefined": "NP_115495.3:p.Ala4921Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14774,
          "referenceAllele": "G",
          "start": 14773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.1:n.14774G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14849,
          "referenceAllele": "G",
          "start": 14848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543675.1:c.14758G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541977.1:p.Ala4920Thr",
        "hgvsWellDefined": "XP_011541977.1:p.Ala4920Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14771,
          "referenceAllele": "G",
          "start": 14770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543676.1:c.14680G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541978.1:p.Ala4894Thr",
        "hgvsWellDefined": "XP_011541978.1:p.Ala4894Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12671,
          "referenceAllele": "G",
          "start": 12670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543677.1:c.12064G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541979.1:p.Ala4022Thr",
        "hgvsWellDefined": "XP_011541979.1:p.Ala4022Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14852,
          "referenceAllele": "G",
          "start": 14851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_011543678.1:c.14761G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541980.1:p.Ala4921Thr",
        "hgvsWellDefined": "XP_011541980.1:p.Ala4921Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA182199",
      "coordinates": [
        {
          "allele": "A",
          "end": 14860,
          "referenceAllele": "G",
          "start": 14859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NM_032119.4:c.14761G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115495.3:p.Ala4921Thr",
        "hgvsWellDefined": "NP_115495.3:p.Ala4921Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405460.9:c.14761G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032119.4:c.14761G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384582.2:p.Ala4921Thr"
          },
          "RefSeq": {
            "hgvs": "NP_115495.3:p.Ala4921Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14874,
          "referenceAllele": "G",
          "start": 14873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009963.2:c.14782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865452.1:p.Ala4928Thr",
        "hgvsWellDefined": "XP_016865452.1:p.Ala4928Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14871,
          "referenceAllele": "G",
          "start": 14870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009964.2:c.14779G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865453.1:p.Ala4927Thr",
        "hgvsWellDefined": "XP_016865453.1:p.Ala4927Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14879,
          "referenceAllele": "G",
          "start": 14878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009965.1:c.14779G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865454.1:p.Ala4927Thr",
        "hgvsWellDefined": "XP_016865454.1:p.Ala4927Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14793,
          "referenceAllele": "G",
          "start": 14792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009966.2:c.14701G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865455.1:p.Ala4901Thr",
        "hgvsWellDefined": "XP_016865455.1:p.Ala4901Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14786,
          "referenceAllele": "G",
          "start": 14785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009967.1:c.14686G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865456.1:p.Ala4896Thr",
        "hgvsWellDefined": "XP_016865456.1:p.Ala4896Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14774,
          "endIntronDirection": "-",
          "endIntronOffset": 2218,
          "referenceAllele": "G",
          "start": 14774,
          "startIntronDirection": "-",
          "startIntronOffset": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009968.2:c.14683-2219G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865457.1:n.14683-2219G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14874,
          "referenceAllele": "G",
          "start": 14873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009969.2:c.14782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865458.1:p.Ala4928Thr",
        "hgvsWellDefined": "XP_016865458.1:p.Ala4928Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14874,
          "referenceAllele": "G",
          "start": 14873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009970.2:c.14782G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865459.1:p.Ala4928Thr",
        "hgvsWellDefined": "XP_016865459.1:p.Ala4928Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14774,
          "endIntronDirection": "-",
          "endIntronOffset": 2218,
          "referenceAllele": "G",
          "start": 14774,
          "startIntronDirection": "-",
          "startIntronOffset": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009971.2:c.14683-2219G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865460.1:n.14683-2219G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8279,
          "referenceAllele": "G",
          "start": 8278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009972.1:c.7900G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865461.1:p.Ala2634Thr",
        "hgvsWellDefined": "XP_016865461.1:p.Ala2634Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9490,
          "referenceAllele": "G",
          "start": 9489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "XM_017009973.1:c.7879G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865462.1:p.Ala2627Thr",
        "hgvsWellDefined": "XP_016865462.1:p.Ala2627Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14777,
          "referenceAllele": "G",
          "start": 14776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017416",
      "geneNCBI_id": 84059,
      "geneSymbol": "ADGRV1",
      "hgvs": [
        "NR_003149.2:n.14777G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701829"
    }
  ],
  "type": "nucleotide"
}