{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16607944",
  "communityStandardTitle": [
    "NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376896[alleleid]",
        "alleleId": 376896,
        "preferredName": "NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/393140",
        "RCV": [
          "RCV000419383",
          "RCV000545492",
          "RCV000568719",
          "RCV002311755",
          "RCV002506083",
          "RCV003401439",
          "RCV004000594"
        ],
        "variationId": 393140
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.48573571A>T?assembly=hg19",
        "id": "chr18:g.48573571A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.51047201A>T?assembly=hg38",
        "id": "chr18:g.51047201A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524809",
        "rs": 1057524809
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-51047201-A-T?dataset=gnomad_r4",
        "id": "18-51047201-A-T",
        "variant": "18:51047201 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 51047201,
          "referenceAllele": "A",
          "start": 51047200
        }
      ],
      "hgvs": [
        "NC_000018.10:g.51047201A>T",
        "CM000680.2:g.51047201A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 48573571,
          "referenceAllele": "A",
          "start": 48573570
        }
      ],
      "hgvs": [
        "NC_000018.9:g.48573571A>T",
        "CM000680.1:g.48573571A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 46827569,
          "referenceAllele": "A",
          "start": 46827568
        }
      ],
      "hgvs": [
        "NC_000018.8:g.46827569A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84162,
          "referenceAllele": "A",
          "start": 84161
        }
      ],
      "hgvs": [
        "NG_013013.2:g.84162A>T",
        "LRG_318:g.84162A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002660"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "A",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.6:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.2:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000465878.2:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "A",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.6:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.2:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000466934.2:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.2:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.2:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000465874.2:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "A",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.2:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.2:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000464772.2:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "A",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000593223.2:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466118.2:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000466118.2:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "A",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000611848.2:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478613.2:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000478613.2:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.8:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000341551.3:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.155A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.155A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Asp52Val"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Asp52Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000342988.7:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341551.3:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000341551.3:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "A",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000398417.6:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381452.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000381452.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155,
          "referenceAllele": "A",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588745.5:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464901.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000464901.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000588860.5:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465878.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000465878.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "A",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589076.5:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466934.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000466934.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23,
          "referenceAllele": "A",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589706.1:n.23A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000589941.1:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465874.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000465874.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "A",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000590061.1:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464772.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000464772.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "hgvs": [
        "ENST00000590722.2:c.*178A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465737.1:n.*178A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000591914.5:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466941.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000466941.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155,
          "referenceAllele": "A",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592186.5:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468611.1:p.Asp52Val",
        "hgvsWellDefined": "ENSP00000468611.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27,
          "endIntronDirection": "-",
          "endIntronOffset": 1484,
          "referenceAllele": "A",
          "start": 27,
          "startIntronDirection": "-",
          "startIntronOffset": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "ENST00000592911.5:n.28-1485A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474717",
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.5:c.155A>T",
        "LRG_318t1:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Asp52Val",
        "hgvsWellDefined": "NP_005350.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645474717",
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006770",
      "geneNCBI_id": 4089,
      "geneSymbol": "SMAD4",
      "hgvs": [
        "NM_005359.6:c.155A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005350.1:p.Asp52Val",
        "hgvsWellDefined": "NP_005350.1:p.Asp52Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342988.8:c.155A>T"
          },
          "RefSeq": {
            "hgvs": "NM_005359.6:c.155A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000341551.3:p.Asp52Val"
          },
          "RefSeq": {
            "hgvs": "NP_005350.1:p.Asp52Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}