{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9604421",
  "communityStandardTitle": [
    "NM_001648.2(KLK3):c.394C>T (p.Leu132Phe)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-51361472-C-T",
        "id": "19-51361472-C-T",
        "variant": "19:51361472 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.51361472C>T?assembly=hg19",
        "id": "chr19:g.51361472C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50858216C>T?assembly=hg38",
        "id": "chr19:g.50858216C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2003783",
        "rs": 2003783
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-51361472-C-T?dataset=gnomad_r2_1",
        "id": "19-51361472-C-T",
        "variant": "19:51361472 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-50858216-C-T?dataset=gnomad_r4",
        "id": "19-50858216-C-T",
        "variant": "19:50858216 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50858216,
          "referenceAllele": "C",
          "start": 50858215
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50858216C>T",
        "CM000681.2:g.50858216C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 51361472,
          "referenceAllele": "C",
          "start": 51361471
        }
      ],
      "hgvs": [
        "NC_000019.9:g.51361472C>T",
        "CM000681.1:g.51361472C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 56053284,
          "referenceAllele": "C",
          "start": 56053283
        }
      ],
      "hgvs": [
        "NC_000019.8:g.56053284C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8302,
          "referenceAllele": "C",
          "start": 8301
        }
      ],
      "hgvs": [
        "NG_011653.1:g.8302C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001886"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000326003.7:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314151.1:p.Leu132Phe",
        "hgvsWellDefined": "ENSP00000314151.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326003.7:c.394C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001648.2:c.394C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314151.1:p.Leu132Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001639.1:p.Leu132Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000326003.6:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314151.1:p.Leu132Phe",
        "hgvsWellDefined": "ENSP00000314151.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000360617.7:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353829.2:p.Leu132Phe",
        "hgvsWellDefined": "ENSP00000353829.2:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000422986.6:c.*50C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393628.2:n.*50C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000593997.5:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472907.1:p.Leu132Phe",
        "hgvsWellDefined": "ENSP00000472907.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "endIntronDirection": "+",
          "endIntronOffset": 42,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "+",
          "startIntronOffset": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000595392.5:c.352+42C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468912.1:n.352+42C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000595952.5:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471155.1:p.Leu89Phe",
        "hgvsWellDefined": "ENSP00000471155.1:p.Leu89Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000596185.5:c.*502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471648.1:n.*502C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000596333.1:n.429C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000597286.5:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470523.1:p.Leu95Phe",
        "hgvsWellDefined": "ENSP00000470523.1:p.Leu95Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000597483.5:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472411.1:p.Leu89Phe",
        "hgvsWellDefined": "ENSP00000472411.1:p.Leu89Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000598145.1:c.378C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000601349.5:n.1673C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000601503.5:c.337C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472213.1:p.Leu113Phe",
        "hgvsWellDefined": "ENSP00000472213.1:p.Leu113Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000601812.1:n.826C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS397904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "endIntronDirection": "+",
          "endIntronOffset": 41,
          "referenceAllele": "C",
          "start": 394,
          "startIntronDirection": "+",
          "startIntronOffset": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "ENST00000617027.4:c.353+41C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483513.1:n.353+41C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "NM_001030047.1:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025218.1:p.Leu132Phe",
        "hgvsWellDefined": "NP_001025218.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "NM_001030048.1:c.265C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025219.1:p.Leu89Phe",
        "hgvsWellDefined": "NP_001025219.1:p.Leu89Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085847582",
      "coordinates": [
        {
          "allele": "T",
          "end": 435,
          "referenceAllele": "C",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "NM_001648.2:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001639.1:p.Leu132Phe",
        "hgvsWellDefined": "NP_001639.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326003.7:c.394C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001648.2:c.394C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000314151.1:p.Leu132Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001639.1:p.Leu132Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "XM_011526923.1:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525225.1:p.Leu132Phe",
        "hgvsWellDefined": "XP_011525225.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "XM_011526924.1:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525226.1:p.Leu132Phe",
        "hgvsWellDefined": "XP_011525226.1:p.Leu132Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006364",
      "geneNCBI_id": 354,
      "geneSymbol": "KLK3",
      "hgvs": [
        "XR_935817.1:n.429C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131048"
    }
  ],
  "type": "nucleotide"
}