{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4941734",
  "communityStandardTitle": [
    "NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM454232"
      },
      {
        "active": false,
        "id": "COSM1489129"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=313509[alleleid]",
        "alleleId": 313509,
        "preferredName": "NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/362260",
        "RCV": [
          "RCV000359976",
          "RCV000455765",
          "RCV001515873"
        ],
        "variationId": 362260
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-145641328-C-T",
        "id": "8-145641328-C-T",
        "variant": "8:145641328 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145641328C>T?assembly=hg19",
        "id": "chr8:g.145641328C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144415944C>T?assembly=hg38",
        "id": "chr8:g.144415944C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17855765",
        "rs": 17855765
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145641328-C-T?dataset=gnomad_r2_1",
        "id": "8-145641328-C-T",
        "variant": "8:145641328 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144415944-C-T?dataset=gnomad_r3",
        "id": "8-144415944-C-T",
        "variant": "8:144415944 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144415944-C-T?dataset=gnomad_r4",
        "id": "8-144415944-C-T",
        "variant": "8:144415944 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 144415944,
          "referenceAllele": "C",
          "start": 144415943
        }
      ],
      "hgvs": [
        "NC_000008.11:g.144415944C>T",
        "CM000670.2:g.144415944C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145641328,
          "referenceAllele": "C",
          "start": 145641327
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145641328C>T",
        "CM000670.1:g.145641328C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 145612136,
          "referenceAllele": "C",
          "start": 145612135
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145612136C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5947,
          "referenceAllele": "G",
          "start": 5946
        }
      ],
      "hgvs": [
        "NG_012234.2:g.5947G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002306"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000301305.8:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301305.4:p.Ala114Thr",
        "hgvsWellDefined": "ENSP00000301305.4:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301305.8:c.340G>A"
          },
          "RefSeq": {
            "hgvs": "NM_130849.4:c.340G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301305.4:p.Ala114Thr"
          },
          "RefSeq": {
            "hgvs": "NP_570901.3:p.Ala114Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000276833.9:c.265G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276833.5:p.Ala89Thr",
        "hgvsWellDefined": "ENSP00000276833.5:p.Ala89Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000301305.7:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301305.3:p.Ala114Thr",
        "hgvsWellDefined": "ENSP00000301305.3:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 524,
          "referenceAllele": "G",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000526658.1:c.193-525G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434512.1:n.193-525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_017767.2:c.265G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060237.2:p.Ala89Thr",
        "hgvsWellDefined": "NP_060237.2:p.Ala89Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645460691",
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_130849.3:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_570901.2:p.Ala114Thr",
        "hgvsWellDefined": "NP_570901.2:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040441"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 425,
          "referenceAllele": "G",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_006716599.1:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716662.1:p.Ala114Thr",
        "hgvsWellDefined": "XP_006716662.1:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "-",
          "endIntronOffset": 524,
          "referenceAllele": "G",
          "start": 1437,
          "startIntronDirection": "-",
          "startIntronOffset": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_011517153.1:c.193-525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515455.1:n.193-525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "endIntronDirection": "-",
          "endIntronOffset": 524,
          "referenceAllele": "G",
          "start": 548,
          "startIntronDirection": "-",
          "startIntronOffset": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_024447188.1:c.193-525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302956.1:n.193-525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 524,
          "referenceAllele": "G",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_024447189.1:c.193-525G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302957.1:n.193-525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 524,
          "referenceAllele": "G",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_001374839.1:c.193-525G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361768.1:n.193-525G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916056182",
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_017767.3:c.265G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060237.3:p.Ala89Thr",
        "hgvsWellDefined": "NP_060237.3:p.Ala89Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830185960",
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_130849.4:c.340G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_570901.3:p.Ala114Thr",
        "hgvsWellDefined": "NP_570901.3:p.Ala114Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301305.8:c.340G>A"
          },
          "RefSeq": {
            "hgvs": "NM_130849.4:c.340G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301305.4:p.Ala114Thr"
          },
          "RefSeq": {
            "hgvs": "NP_570901.3:p.Ala114Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}