{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1957419848",
  "communityStandardTitle": [
    "NM_213599.3(ANO5):c.1733T= (p.Phe578=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137854526",
        "rs": 137854526
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 22262231,
          "referenceAllele": "T",
          "start": 22262230
        }
      ],
      "hgvs": [
        "NC_000011.10:g.22262231T=",
        "CM000673.2:g.22262231T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 22283777,
          "referenceAllele": "T",
          "start": 22283776
        }
      ],
      "hgvs": [
        "NC_000011.9:g.22283777T=",
        "CM000673.1:g.22283777T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 22240353,
          "referenceAllele": "T",
          "start": 22240352
        }
      ],
      "hgvs": [
        "NC_000011.8:g.22240353T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74056,
          "referenceAllele": "T",
          "start": 74055
        }
      ],
      "hgvs": [
        "NG_015844.1:g.74056T=",
        "LRG_868:g.74056T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002875"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1982,
          "referenceAllele": "T",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000682266.1:c.1283T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507766.1:p.Phe428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "T",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000682341.1:c.1691T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508251.1:p.Phe564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "T",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000683197.1:c.1691T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507641.1:p.Phe564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2125,
          "referenceAllele": "T",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000683411.1:c.1283T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508397.1:p.Phe428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "referenceAllele": "T",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000683437.1:c.1283T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508408.1:p.Phe428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2727,
          "referenceAllele": "T",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000683613.1:n.2727T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2136,
          "referenceAllele": "T",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000684663.1:c.1688T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508009.1:p.Phe563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000324559.9:c.1733T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315371.9:p.Phe578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.1733T="
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.1733T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Phe578="
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Phe578="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2068,
          "referenceAllele": "T",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000648804.1:n.2068T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "T",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000324559.8:c.1733T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315371.8:p.Phe578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809582",
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "T",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.1:c.1730T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Phe577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525064",
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "T",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.2:c.1733T=",
        "LRG_868t1:c.1733T="
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Phe578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "T",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252820.2:c.1691T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252877.2:p.Phe564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "T",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252821.2:c.1688T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252878.2:p.Phe563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "T",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252822.3:c.1655T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252879.1:p.Phe552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1904,
          "referenceAllele": "T",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252823.3:c.1652T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252880.1:p.Phe551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2123,
          "referenceAllele": "T",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.1:c.1640T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Phe547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "T",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252820.3:c.1691T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252877.2:p.Phe564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "T",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252821.3:c.1688T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252878.2:p.Phe563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "T",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252822.4:c.1655T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005252879.1:p.Phe552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.2:c.1640T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Phe547="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809582",
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "T",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.2:c.1730T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Phe577="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830525064",
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.3:c.1733T="
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Phe578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.1733T="
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.1733T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Phe578="
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Phe578="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}