{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389117440",
  "communityStandardTitle": [
    "NM_001097577.3(ANG):c.407C>G (p.Pro136Arg)",
    "NM_002937.5(RNASE4):c.-17-5384C>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21162130C>G?assembly=hg19",
        "id": "chr14:g.21162130C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.20693971C>G?assembly=hg38",
        "id": "chr14:g.20693971C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909543",
        "rs": 121909543
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-20693971-C-G?dataset=gnomad_r4",
        "id": "14-20693971-C-G",
        "variant": "14:20693971 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 20693971,
          "referenceAllele": "C",
          "start": 20693970
        }
      ],
      "hgvs": [
        "NC_000014.9:g.20693971C>G",
        "CM000676.2:g.20693971C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 21162130,
          "referenceAllele": "C",
          "start": 21162129
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21162130C>G",
        "CM000676.1:g.21162130C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 20231970,
          "referenceAllele": "C",
          "start": 20231969
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20231970C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14795,
          "referenceAllele": "C",
          "start": 14794
        }
      ],
      "hgvs": [
        "NG_008717.2:g.14795C>G",
        "LRG_653:g.14795C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14759,
          "referenceAllele": "C",
          "start": 14758
        }
      ],
      "hgvs": [
        "NG_033053.1:g.14759C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000397990.5:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381077.4:p.Pro136Arg",
        "hgvsWellDefined": "ENSP00000381077.4:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397990.5:c.407C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001097577.3:c.407C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381077.4:p.Pro136Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001091046.1:p.Pro136Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000555835.3:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452245.1:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760141",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555835.3:c.-17-5384C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002937.5:c.-17-5384C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452245.1:n.-17-5384C>G"
          },
          "RefSeq": {
            "hgvs": "NP_002928.1:n.-17-5384C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000336811.10:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336762.6:p.Pro136Arg",
        "hgvsWellDefined": "ENSP00000336762.6:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000397990.4:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381077.4:p.Pro136Arg",
        "hgvsWellDefined": "ENSP00000381077.4:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000397995.2:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381081.2:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "C",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "hgvs": [
        "ENST00000553909.1:c.86+321C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477037.1:n.86+321C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145,
          "endIntronDirection": "-",
          "endIntronOffset": 4894,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "-",
          "startIntronOffset": 4895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000554073.1:n.146-4895C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 5097,
          "referenceAllele": "C",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000555597.1:c.-18+5097C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451624.1:n.-18+5097C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000555835.2:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452245.1:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001097577.2:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091046.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001091046.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081110973",
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001145.4:c.407C>G",
        "LRG_653t1:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001136.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "C",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282192.1:c.-18+321C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269121.1:n.-18+321C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282193.1:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269122.1:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_002937.4:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002928.1:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 98,
          "endIntronDirection": "+",
          "endIntronOffset": 5097,
          "referenceAllele": "C",
          "start": 98,
          "startIntronDirection": "+",
          "startIntronOffset": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_194431.2:c.-18+5097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919412.1:n.-18+5097C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_002937.5:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002928.1:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555835.3:c.-17-5384C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002937.5:c.-17-5384C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452245.1:n.-17-5384C>G"
          },
          "RefSeq": {
            "hgvs": "NP_002928.1:n.-17-5384C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001097577.3:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091046.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001091046.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397990.5:c.407C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001097577.3:c.407C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381077.4:p.Pro136Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001091046.1:p.Pro136Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 321,
          "referenceAllele": "C",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282192.2:c.-18+321C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269121.1:n.-18+321C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 5383,
          "referenceAllele": "C",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 5384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282193.2:c.-17-5384C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269122.1:n.-17-5384C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 5097,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_194431.3:c.-18+5097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919412.1:n.-18+5097C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 748,
          "referenceAllele": "C",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385271.1:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372200.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001372200.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385272.1:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372201.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001372201.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385273.1:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372202.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001372202.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385274.1:c.407C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372203.1:p.Pro136Arg",
        "hgvsWellDefined": "NP_001372203.1:p.Pro136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 221,
          "referenceAllele": "G",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054482",
      "geneNCBI_id": 116435281,
      "geneSymbol": "EGILA",
      "hgvs": [
        "NR_174964.1:n.467-222G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785086"
    }
  ],
  "type": "nucleotide"
}