{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1087652285",
  "communityStandardTitle": [
    "NM_006979.3(SLC39A7):c.635-3C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1779835[alleleid]",
        "alleleId": 1779835,
        "preferredName": "NM_006979.3(SLC39A7):c.635-3C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1722325",
        "RCV": [
          "RCV002302439"
        ],
        "variationId": 1722325
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/966007186",
        "rs": 966007186
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-33202260-C-A?dataset=gnomad_r3",
        "id": "6-33202260-C-A",
        "variant": "6:33202260 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-33202260-C-A?dataset=gnomad_r4",
        "id": "6-33202260-C-A",
        "variant": "6:33202260 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 33202260,
          "referenceAllele": "C",
          "start": 33202259
        }
      ],
      "hgvs": [
        "NC_000006.12:g.33202260C>A",
        "CM000668.2:g.33202260C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 33170037,
          "referenceAllele": "C",
          "start": 33170036
        }
      ],
      "hgvs": [
        "NC_000006.11:g.33170037C>A",
        "CM000668.1:g.33170037C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 33278015,
          "referenceAllele": "C",
          "start": 33278014
        }
      ],
      "hgvs": [
        "NC_000006.10:g.33278015C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3396,
          "referenceAllele": "G",
          "start": 3395
        }
      ],
      "hgvs": [
        "NG_023374.1:g.3396G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003828"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698677.1:n.1565C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1546,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1546,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698678.1:n.1547-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1809,
          "referenceAllele": "C",
          "start": 1808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698679.1:n.1809C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1000,
          "endIntronDirection": "-",
          "endIntronOffset": 299,
          "referenceAllele": "C",
          "start": 1000,
          "startIntronDirection": "-",
          "startIntronOffset": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698680.1:c.581-300C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513871.1:n.581-300C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698681.1:n.1347C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698682.1:n.1055-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1189,
          "referenceAllele": "C",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698683.1:n.1189C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698684.1:n.1347C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698685.1:n.1081C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698686.1:n.983C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698687.1:c.581-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513872.1:n.581-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 70,
          "referenceAllele": "C",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698688.1:c.635-71C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513873.1:n.635-71C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 775,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698689.1:n.776-3C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000698690.1:n.445C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1013,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000374677.8:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363809.3:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751475",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374677.8:c.635-3C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006979.3:c.635-3C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363809.3:n.635-3C>A"
          },
          "RefSeq": {
            "hgvs": "NP_008910.2:n.635-3C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 751,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000374675.7:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363807.3:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1007,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000374677.7:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363809.3:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 717,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000444757.5:c.365-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400978.1:n.365-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6,
          "referenceAllele": "C",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000463972.1:n.6C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 919,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "ENST00000617885.1:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478192.1:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 751,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "NM_001077516.1:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070984.1:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 467,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "NM_001288777.1:c.260-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275706.1:n.260-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "NM_006979.2:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008910.2:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1013,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "NM_006979.3:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_008910.2:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374677.8:c.635-3C>A"
          },
          "RefSeq": {
            "hgvs": "NM_006979.3:c.635-3C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363809.3:n.635-3C>A"
          },
          "RefSeq": {
            "hgvs": "NP_008910.2:n.635-3C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "NM_001077516.2:c.635-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070984.1:n.635-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004927",
      "geneNCBI_id": 7922,
      "geneSymbol": "SLC39A7",
      "hgvs": [
        "NM_001288777.2:c.260-3C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275706.1:n.260-3C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682526"
    }
  ],
  "type": "nucleotide"
}