{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA30511712",
  "communityStandardTitle": [
    "NM_001330723.2(SNX27):c.336G>A (p.Ala112=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1585438[alleleid]",
        "alleleId": 1585438,
        "preferredName": "NM_001330723.2(SNX27):c.336G>A (p.Ala112=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1610620",
        "RCV": [
          "RCV002145407"
        ],
        "variationId": 1610620
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.151611388G>A?assembly=hg19",
        "id": "chr1:g.151611388G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.151638912G>A?assembly=hg38",
        "id": "chr1:g.151638912G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/567918235",
        "rs": 567918235
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151611388-G-A?dataset=gnomad_r2_1",
        "id": "1-151611388-G-A",
        "variant": "1:151611388 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151638912-G-A?dataset=gnomad_r3",
        "id": "1-151638912-G-A",
        "variant": "1:151638912 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-151638912-G-A?dataset=gnomad_r4",
        "id": "1-151638912-G-A",
        "variant": "1:151638912 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 151638912,
          "referenceAllele": "G",
          "start": 151638911
        }
      ],
      "hgvs": [
        "NC_000001.11:g.151638912G>A",
        "CM000663.2:g.151638912G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 151611388,
          "referenceAllele": "G",
          "start": 151611387
        }
      ],
      "hgvs": [
        "NC_000001.10:g.151611388G>A",
        "CM000663.1:g.151611388G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 149878012,
          "referenceAllele": "G",
          "start": 149878011
        }
      ],
      "hgvs": [
        "NC_000001.9:g.149878012G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368841.7:c.*7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357834.2:n.*7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368843.8:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357836.3:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000458013.7:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400333.2:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756615",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458013.7:c.336G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001330723.2:c.336G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400333.2:p.Ala112="
          },
          "RefSeq": {
            "hgvs": "NP_001317652.1:p.Ala112="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642349.1:c.70G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494331.1:n.70G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642376.1:c.181-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496645.1:n.181-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642479.1:c.312-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496775.1:n.312-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "referenceAllele": "G",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000642582.1:n.52G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000643179.1:n.144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "G",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000643814.1:n.57G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20,
          "referenceAllele": "G",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000644113.1:n.20G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 541,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000644970.1:n.542-19323G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "G",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000647328.1:n.57G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "G",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368838.1:c.57G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357831.1:p.Ala19="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368841.6:c.*7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357834.2:n.*7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000368843.7:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357836.3:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "ENST00000458013.6:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400333.2:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830061269",
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_030918.5:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_112180.4:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245509.1:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245566.1:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 94,
          "referenceAllele": "G",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245510.2:c.27G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245567.1:p.Ala9="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245511.3:c.-223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245568.1:n.-223G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 257,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 257,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510024.1:c.241-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508326.1:n.241-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510025.1:c.181-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508327.1:n.181-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510026.1:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508328.1:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827344207",
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_001330723.1:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317652.1:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245510.3:c.27G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245567.1:p.Ala9="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 380,
          "referenceAllele": "G",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_005245511.4:c.-223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245568.1:n.-223G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510024.2:c.241-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508326.1:n.241-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510025.2:c.181-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508327.1:n.181-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510026.2:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508328.1:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_017002417.1:c.181-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857906.1:n.181-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 416,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_024450038.1:c.-15-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305806.1:n.-15-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "endIntronDirection": "-",
          "endIntronOffset": 19322,
          "referenceAllele": "G",
          "start": 168,
          "startIntronDirection": "-",
          "startIntronOffset": 19323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_024450039.1:c.-15-19323G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305807.1:n.-15-19323G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827344207",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_001330723.2:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317652.1:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458013.7:c.336G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001330723.2:c.336G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400333.2:p.Ala112="
          },
          "RefSeq": {
            "hgvs": "NP_001317652.1:p.Ala112="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830061269",
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_030918.6:c.336G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_112180.4:p.Ala112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698899"
    }
  ],
  "type": "nucleotide"
}