{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407041292",
  "communityStandardTitle": [
    "NM_004917.5(KLK4):c.458G>C (p.Trp153Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.51411852C>G?assembly=hg19",
        "id": "chr19:g.51411852C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50908596C>G?assembly=hg38",
        "id": "chr19:g.50908596C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894704",
        "rs": 104894704
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 50908596,
          "referenceAllele": "C",
          "start": 50908595
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50908596C>G",
        "CM000681.2:g.50908596C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 51411852,
          "referenceAllele": "C",
          "start": 51411851
        }
      ],
      "hgvs": [
        "NC_000019.9:g.51411852C>G",
        "CM000681.1:g.51411852C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 56103664,
          "referenceAllele": "C",
          "start": 56103663
        }
      ],
      "hgvs": [
        "NC_000019.8:g.56103664C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7143,
          "referenceAllele": "G",
          "start": 7142
        }
      ],
      "hgvs": [
        "NG_012154.2:g.7143G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002237"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000324041.6:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326159.1:p.Trp153Ser",
        "hgvsWellDefined": "ENSP00000326159.1:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823876",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324041.6:c.458G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004917.5:c.458G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326159.1:p.Trp153Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004908.4:p.Trp153Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000324041.5:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326159.1:p.Trp153Ser",
        "hgvsWellDefined": "ENSP00000326159.1:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000431178.2:c.311G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399448.2:p.Trp104Ser",
        "hgvsWellDefined": "ENSP00000399448.2:p.Trp104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291493"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000593885.1:c.173G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469769.1:p.Trp58Ser",
        "hgvsWellDefined": "ENSP00000469769.1:p.Trp58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000596876.1:n.377G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000598305.5:c.173G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469963.1:p.Trp58Ser",
        "hgvsWellDefined": "ENSP00000469963.1:p.Trp58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000599865.5:n.311G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "ENST00000602148.1:c.470G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472091.1:n.470G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "NM_001302961.1:c.173G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289890.1:p.Trp58Ser",
        "hgvsWellDefined": "NP_001289890.1:p.Trp58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025378"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868718",
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "NM_004917.4:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004908.4:p.Trp153Ser",
        "hgvsWellDefined": "NP_004908.4:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "NR_126566.1:n.451G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_005259441.3:c.173G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259498.2:p.Trp58Ser",
        "hgvsWellDefined": "XP_005259498.2:p.Trp58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_011527545.1:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525847.1:p.Trp153Ser",
        "hgvsWellDefined": "XP_011525847.1:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 469,
          "referenceAllele": "G",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_011527546.1:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525848.1:p.Trp153Ser",
        "hgvsWellDefined": "XP_011525848.1:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_011527547.1:c.311G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525849.1:p.Trp104Ser",
        "hgvsWellDefined": "XP_011525849.1:p.Trp104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_005259441.4:c.173G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259498.2:p.Trp58Ser",
        "hgvsWellDefined": "XP_005259498.2:p.Trp58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_011527545.3:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525847.1:p.Trp153Ser",
        "hgvsWellDefined": "XP_011525847.1:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "XM_011527546.2:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525848.1:p.Trp153Ser",
        "hgvsWellDefined": "XP_011525848.1:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 470,
          "referenceAllele": "G",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "NM_001302961.2:c.173G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289890.1:p.Trp58Ser",
        "hgvsWellDefined": "NP_001289890.1:p.Trp58Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "NR_126566.2:n.451G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868718",
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006365",
      "geneNCBI_id": 9622,
      "geneSymbol": "KLK4",
      "hgvs": [
        "NM_004917.5:c.458G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004908.4:p.Trp153Ser",
        "hgvsWellDefined": "NP_004908.4:p.Trp153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324041.6:c.458G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004917.5:c.458G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326159.1:p.Trp153Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004908.4:p.Trp153Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}