{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395139213",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.158A>C (p.Glu53Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23649224T>G?assembly=hg19",
        "id": "chr16:g.23649224T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23637903T>G?assembly=hg38",
        "id": "chr16:g.23637903T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 23637903,
          "referenceAllele": "T",
          "start": 23637902
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23637903T>G",
        "CM000678.2:g.23637903T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 23649224,
          "referenceAllele": "T",
          "start": 23649223
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23649224T>G",
        "CM000678.1:g.23649224T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 23556725,
          "referenceAllele": "T",
          "start": 23556724
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23556725T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8455,
          "referenceAllele": "A",
          "start": 8454
        }
      ],
      "hgvs": [
        "NG_007406.1:g.8455A>C",
        "LRG_308:g.8455A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Glu55Ala",
        "hgvsWellDefined": "ENSP00000460666.3:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:p.Glu53Ala",
        "hgvsWellDefined": "ENSP00000459882.2:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "referenceAllele": "A",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Glu53Ala",
        "hgvsWellDefined": "ENSP00000459237.2:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Glu55Ala",
        "hgvsWellDefined": "ENSP00000513286.2:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "A",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Glu55Ala",
        "hgvsWellDefined": "ENSP00000513287.2:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 681,
          "referenceAllele": "A",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1505,
          "referenceAllele": "A",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.1505A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "referenceAllele": "A",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 557,
          "referenceAllele": "A",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "A",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.678A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "A",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 3207,
          "referenceAllele": "A",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+3207A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+3207A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "A",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.312A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "A",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Glu53Ala",
        "hgvsWellDefined": "ENSP00000261584.4:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.158A>C"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.158A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Glu53Ala"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Glu53Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "A",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Glu53Ala",
        "hgvsWellDefined": "ENSP00000261584.4:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.1:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.1:p.Glu55Ala",
        "hgvsWellDefined": "ENSP00000460666.1:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33,
          "referenceAllele": "A",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.33A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000567003.1:n.436A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "A",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.158A>C",
        "LRG_308t1:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Glu53Ala",
        "hgvsWellDefined": "NP_078951.2:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "A",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Glu55Ala",
        "hgvsWellDefined": "XP_011544248.1:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "A",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Glu55Ala",
        "hgvsWellDefined": "XP_011544249.1:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "A",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 954,
          "referenceAllele": "A",
          "start": 953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.954A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1163,
          "referenceAllele": "A",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Glu55Ala",
        "hgvsWellDefined": "XP_011544248.1:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "A",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Glu55Ala",
        "hgvsWellDefined": "XP_011544249.1:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 450,
          "referenceAllele": "A",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.-728A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-728A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1128,
          "referenceAllele": "A",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.164A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Glu55Ala",
        "hgvsWellDefined": "XP_016879160.1:p.Glu55Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Glu53Ala",
        "hgvsWellDefined": "XP_016879161.1:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "A",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Glu53Ala",
        "hgvsWellDefined": "XP_016879162.1:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "A",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.158A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Glu53Ala",
        "hgvsWellDefined": "NP_078951.2:p.Glu53Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.158A>C"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.158A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Glu53Ala"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Glu53Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}