{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395139240",
  "communityStandardTitle": [
    "NM_024675.4(PALB2):c.152C>A (p.Thr51Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2731219[alleleid]",
        "alleleId": 2731219,
        "preferredName": "NM_024675.4(PALB2):c.152C>A (p.Thr51Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2567577",
        "RCV": [
          "RCV003278579"
        ],
        "variationId": 2567577
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23649230G>T?assembly=hg19",
        "id": "chr16:g.23649230G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.23637909G>T?assembly=hg38",
        "id": "chr16:g.23637909G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1967102805",
        "rs": 1967102805
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 23637909,
          "referenceAllele": "G",
          "start": 23637908
        }
      ],
      "hgvs": [
        "NC_000016.10:g.23637909G>T",
        "CM000678.2:g.23637909G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 23649230,
          "referenceAllele": "G",
          "start": 23649229
        }
      ],
      "hgvs": [
        "NC_000016.9:g.23649230G>T",
        "CM000678.1:g.23649230G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 23556731,
          "referenceAllele": "G",
          "start": 23556730
        }
      ],
      "hgvs": [
        "NC_000016.8:g.23556731G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8449,
          "referenceAllele": "C",
          "start": 8448
        }
      ],
      "hgvs": [
        "NG_007406.1:g.8449C>A",
        "LRG_308:g.8449C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.3:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.3:p.Thr53Lys",
        "hgvsWellDefined": "ENSP00000460666.3:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.2:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459882.2:p.Thr51Lys",
        "hgvsWellDefined": "ENSP00000459882.2:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000566069.6:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459237.2:p.Thr51Lys",
        "hgvsWellDefined": "ENSP00000459237.2:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.2:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.2:p.Thr53Lys",
        "hgvsWellDefined": "ENSP00000513286.2:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.2:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.2:p.Thr53Lys",
        "hgvsWellDefined": "ENSP00000513287.2:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.2:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.2:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697374.1:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513284.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697375.1:n.1499C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "referenceAllele": "C",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697376.1:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513285.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "referenceAllele": "C",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697377.1:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513286.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697378.1:n.672C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697379.1:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513287.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697382.1:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513288.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908752"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 3201,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697383.1:c.48+3201C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513289.1:n.48+3201C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000697384.1:n.306C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.9:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Thr51Lys",
        "hgvsWellDefined": "ENSP00000261584.4:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742164",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.152C>A"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.152C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Thr51Lys"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Thr51Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000261584.8:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261584.4:p.Thr51Lys",
        "hgvsWellDefined": "ENSP00000261584.4:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000561514.1:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460666.1:p.Thr53Lys",
        "hgvsWellDefined": "ENSP00000460666.1:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "C",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000565038.1:c.27C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000567003.1:n.430C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "referenceAllele": "C",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "ENST00000568219.5:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454703.2:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741984550",
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.3:c.152C>A",
        "LRG_308t1:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Thr51Lys",
        "hgvsWellDefined": "NP_078951.2:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.1:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Thr53Lys",
        "hgvsWellDefined": "XP_011544248.1:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.1:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Thr53Lys",
        "hgvsWellDefined": "XP_011544249.1:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.1:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XR_950851.1:n.948C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545946.2:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544248.1:p.Thr53Lys",
        "hgvsWellDefined": "XP_011544248.1:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545947.2:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544249.1:p.Thr53Lys",
        "hgvsWellDefined": "XP_011544249.1:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_011545948.2:c.-734C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544250.1:n.-734C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023671.1:c.158C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879160.1:p.Thr53Lys",
        "hgvsWellDefined": "XP_016879160.1:p.Thr53Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023672.2:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879161.1:p.Thr51Lys",
        "hgvsWellDefined": "XP_016879161.1:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "XM_017023673.2:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879162.1:p.Thr51Lys",
        "hgvsWellDefined": "XP_016879162.1:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741984550",
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.152C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Thr51Lys",
        "hgvsWellDefined": "NP_078951.2:p.Thr51Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.152C>A"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.152C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Thr51Lys"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Thr51Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}