{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA150639",
  "communityStandardTitle": [
    "NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106638[alleleid]",
        "alleleId": 106638,
        "preferredName": "NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100772",
        "RCV": [
          "RCV000087136"
        ],
        "variationId": 100772
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135810052A>T?assembly=hg19",
        "id": "chr2:g.135810052A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135052482A>T?assembly=hg38",
        "id": "chr2:g.135052482A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777155",
        "rs": 587777155
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-135052482-A-T?dataset=gnomad_r4",
        "id": "2-135052482-A-T",
        "variant": "2:135052482 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135052482,
          "referenceAllele": "A",
          "start": 135052481
        }
      ],
      "hgvs": [
        "NC_000002.12:g.135052482A>T",
        "CM000664.2:g.135052482A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135810052,
          "referenceAllele": "A",
          "start": 135810051
        }
      ],
      "hgvs": [
        "NC_000002.11:g.135810052A>T",
        "CM000664.1:g.135810052A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135526522,
          "referenceAllele": "A",
          "start": 135526521
        }
      ],
      "hgvs": [
        "NC_000002.10:g.135526522A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5218,
          "referenceAllele": "A",
          "start": 5217
        }
      ],
      "hgvs": [
        "NG_016972.1:g.5218A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003341"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "referenceAllele": "A",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000539493.3:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444306.2:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000444306.2:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "A",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000685967.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508423.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000508423.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "A",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000686114.1:n.84A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "referenceAllele": "A",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000686403.1:n.86A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73,
          "referenceAllele": "A",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000687199.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510319.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000510319.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "referenceAllele": "A",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000688088.1:n.90A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "referenceAllele": "A",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000688182.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509324.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000509324.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "referenceAllele": "A",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000689880.1:n.90A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "referenceAllele": "A",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000690208.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510746.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000510746.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "referenceAllele": "A",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000690785.1:n.90A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 73,
          "referenceAllele": "A",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000691339.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509953.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000509953.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "referenceAllele": "A",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000691478.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509081.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000509081.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90,
          "referenceAllele": "A",
          "start": 89
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000693554.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509030.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000509030.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "A",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000264158.13:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264158.8:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000264158.8:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.71A>T"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.71A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Glu24Val"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Glu24Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000264158.12:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264158.7:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000264158.7:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "A",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000425393.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400761.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000400761.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 81,
          "referenceAllele": "A",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000442034.5:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411418.1:p.Glu24Val",
        "hgvsWellDefined": "ENSP00000411418.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150640",
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Glu24Val",
        "hgvsWellDefined": "NP_001165906.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805579",
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.2:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Glu24Val",
        "hgvsWellDefined": "NP_036365.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510822.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509124.1:p.Glu24Val",
        "hgvsWellDefined": "XP_011509124.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Glu24Val",
        "hgvsWellDefined": "XP_011509125.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510824.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509126.1:p.Glu24Val",
        "hgvsWellDefined": "XP_011509126.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "A",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.1:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Glu24Val",
        "hgvsWellDefined": "XP_011509127.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "A",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.3:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Glu24Val",
        "hgvsWellDefined": "XP_011509125.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "A",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.3:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Glu24Val",
        "hgvsWellDefined": "XP_011509127.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "referenceAllele": "A",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XR_001738674.2:n.98A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150640",
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "A",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.2:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Glu24Val",
        "hgvsWellDefined": "NP_001165906.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805579",
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "A",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.3:c.71A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Glu24Val",
        "hgvsWellDefined": "NP_036365.1:p.Glu24Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.71A>T"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.71A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Glu24Val"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Glu24Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}