{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10117012",
  "communityStandardTitle": [
    "NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1323519[alleleid]",
        "alleleId": 1323519,
        "preferredName": "NM_004782.4(SNAP29):c.118G>T (p.Asp40Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1332801",
        "RCV": [
          "RCV001806375"
        ],
        "variationId": 1332801
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-21213516-G-T",
        "id": "22-21213516-G-T",
        "variant": "22:21213516 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21213516G>T?assembly=hg19",
        "id": "chr22:g.21213516G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20859228G>T?assembly=hg38",
        "id": "chr22:g.20859228G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775445020",
        "rs": 775445020
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-21213516-G-T?dataset=gnomad_r2_1",
        "id": "22-21213516-G-T",
        "variant": "22:21213516 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20859228-G-T?dataset=gnomad_r4",
        "id": "22-20859228-G-T",
        "variant": "22:20859228 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 20859228,
          "referenceAllele": "G",
          "start": 20859227
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20859228G>T",
        "CM000684.2:g.20859228G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 21213516,
          "referenceAllele": "G",
          "start": 21213515
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21213516G>T",
        "CM000684.1:g.21213516G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 19543516,
          "referenceAllele": "G",
          "start": 19543515
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19543516G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5225,
          "referenceAllele": "G",
          "start": 5224
        }
      ],
      "hgvs": [
        "NG_012152.1:g.5225G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "C",
          "start": 4584
        }
      ],
      "hgvs": [
        "NG_033052.1:g.4585C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "C",
          "start": 4584
        }
      ],
      "hgvs": [
        "NG_033052.2:g.4585C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673880"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "G",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011133",
      "geneNCBI_id": 9342,
      "geneSymbol": "SNAP29",
      "hgvs": [
        "ENST00000215730.12:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215730.6:p.Asp40Tyr",
        "hgvsWellDefined": "ENSP00000215730.6:p.Asp40Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740231",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215730.12:c.118G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004782.4:c.118G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215730.6:p.Asp40Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_004773.1:p.Asp40Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011133",
      "geneNCBI_id": 9342,
      "geneSymbol": "SNAP29",
      "hgvs": [
        "ENST00000215730.11:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215730.6:p.Asp40Tyr",
        "hgvsWellDefined": "ENSP00000215730.6:p.Asp40Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190,
          "referenceAllele": "C",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008983",
      "geneNCBI_id": 5297,
      "geneSymbol": "PI4KA",
      "hgvs": [
        "ENST00000449120.1:c.-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402437.1:n.-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011133",
      "geneNCBI_id": 9342,
      "geneSymbol": "SNAP29",
      "hgvs": [
        "ENST00000490458.1:n.148G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573086333",
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011133",
      "geneNCBI_id": 9342,
      "geneSymbol": "SNAP29",
      "hgvs": [
        "NM_004782.3:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004773.1:p.Asp40Tyr",
        "hgvsWellDefined": "NP_004773.1:p.Asp40Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573086333",
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "G",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011133",
      "geneNCBI_id": 9342,
      "geneSymbol": "SNAP29",
      "hgvs": [
        "NM_004782.4:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004773.1:p.Asp40Tyr",
        "hgvsWellDefined": "NP_004773.1:p.Asp40Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000215730.12:c.118G>T"
          },
          "RefSeq": {
            "hgvs": "NM_004782.4:c.118G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000215730.6:p.Asp40Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_004773.1:p.Asp40Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}