{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123913",
  "communityStandardTitle": [
    "NM_000595.4(LTA):c.179C>A (p.Thr60Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3761887"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29418[alleleid]",
        "alleleId": 29418,
        "preferredName": "NM_000595.4(LTA):c.179C>A (p.Thr60Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14379",
        "RCV": [
          "RCV001799607",
          "RCV003974829"
        ],
        "variationId": 14379
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-31540784-C-A",
        "id": "6-31540784-C-A",
        "variant": "6:31540784 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31540784C>A?assembly=hg19",
        "id": "chr6:g.31540784C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.31573007C>A?assembly=hg38",
        "id": "chr6:g.31573007C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1041981",
        "rs": 1041981
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31540784-C-A?dataset=gnomad_r2_1",
        "id": "6-31540784-C-A",
        "variant": "6:31540784 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31573007-C-A?dataset=gnomad_r3",
        "id": "6-31573007-C-A",
        "variant": "6:31573007 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-31573007-C-A?dataset=gnomad_r4",
        "id": "6-31573007-C-A",
        "variant": "6:31573007 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31573007,
          "referenceAllele": "C",
          "start": 31573006
        }
      ],
      "hgvs": [
        "NC_000006.12:g.31573007C>A",
        "CM000668.2:g.31573007C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31540784,
          "referenceAllele": "C",
          "start": 31540783
        }
      ],
      "hgvs": [
        "NC_000006.11:g.31540784C>A",
        "CM000668.1:g.31540784C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 31648763,
          "referenceAllele": "C",
          "start": 31648762
        }
      ],
      "hgvs": [
        "NC_000006.10:g.31648763C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2435,
          "referenceAllele": "C",
          "start": 2434
        }
      ],
      "hgvs": [
        "NG_007462.1:g.2435C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5909,
          "referenceAllele": "C",
          "start": 5908
        }
      ],
      "hgvs": [
        "NG_012010.1:g.5909C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "ENST00000418386.3:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413450.2:p.Thr60Asn",
        "hgvsWellDefined": "ENSP00000413450.2:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754737",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000418386.3:c.179C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000595.4:c.179C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000413450.2:p.Thr60Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000586.2:p.Thr60Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "ENST00000418386.2:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413450.2:p.Thr60Asn",
        "hgvsWellDefined": "ENSP00000413450.2:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "ENST00000454783.5:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403495.1:p.Thr60Asn",
        "hgvsWellDefined": "ENSP00000403495.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "ENST00000471842.1:n.427C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "ENST00000489638.5:n.307C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825209952",
      "coordinates": [
        {
          "allele": "A",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "NM_000595.3:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000586.2:p.Thr60Asn",
        "hgvsWellDefined": "NP_000586.2:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123914",
      "coordinates": [
        {
          "allele": "A",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "NM_001159740.2:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153212.1:p.Thr60Asn",
        "hgvsWellDefined": "NP_001153212.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514614.1:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512916.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512916.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514615.1:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512917.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512917.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514616.1:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512918.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512918.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514617.1:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512919.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512919.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514618.1:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512920.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512920.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514615.2:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512917.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512917.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514616.2:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512918.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512918.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "XM_011514617.2:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512919.1:p.Thr60Asn",
        "hgvsWellDefined": "XP_011512919.1:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825209952",
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006709",
      "geneNCBI_id": 4049,
      "geneSymbol": "LTA",
      "hgvs": [
        "NM_000595.4:c.179C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000586.2:p.Thr60Asn",
        "hgvsWellDefined": "NP_000586.2:p.Thr60Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000418386.3:c.179C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000595.4:c.179C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000413450.2:p.Thr60Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000586.2:p.Thr60Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}