{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA258088",
  "communityStandardTitle": [
    "NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)",
    "NM_002937.5(RNASE4):c.-17-5684A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33112[alleleid]",
        "alleleId": 33112,
        "preferredName": "NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18073",
        "RCV": [
          "RCV000019699"
        ],
        "variationId": 18073
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21161830A>T?assembly=hg19",
        "id": "chr14:g.21161830A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.20693671A>T?assembly=hg38",
        "id": "chr14:g.20693671A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909535",
        "rs": 121909535
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 20693671,
          "referenceAllele": "A",
          "start": 20693670
        }
      ],
      "hgvs": [
        "NC_000014.9:g.20693671A>T",
        "CM000676.2:g.20693671A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 21161830,
          "referenceAllele": "A",
          "start": 21161829
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21161830A>T",
        "CM000676.1:g.21161830A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 20231670,
          "referenceAllele": "A",
          "start": 20231669
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20231670A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14495,
          "referenceAllele": "A",
          "start": 14494
        }
      ],
      "hgvs": [
        "NG_008717.2:g.14495A>T",
        "LRG_653:g.14495A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14459,
          "referenceAllele": "A",
          "start": 14458
        }
      ],
      "hgvs": [
        "NG_033053.1:g.14459A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005385"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000397990.5:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381077.4:p.Gln36Leu",
        "hgvsWellDefined": "ENSP00000381077.4:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397990.5:c.107A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001097577.3:c.107A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381077.4:p.Gln36Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001091046.1:p.Gln36Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000555835.3:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452245.1:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760141",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555835.3:c.-17-5684A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002937.5:c.-17-5684A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452245.1:n.-17-5684A>T"
          },
          "RefSeq": {
            "hgvs": "NP_002928.1:n.-17-5684A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000336811.10:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336762.6:p.Gln36Leu",
        "hgvsWellDefined": "ENSP00000336762.6:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "A",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000397990.4:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381077.4:p.Gln36Leu",
        "hgvsWellDefined": "ENSP00000381077.4:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278077"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000397995.2:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381081.2:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 276,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "hgvs": [
        "ENST00000553909.1:c.86+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477037.1:n.86+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "endIntronDirection": "-",
          "endIntronOffset": 5194,
          "referenceAllele": "A",
          "start": 145,
          "startIntronDirection": "-",
          "startIntronOffset": 5195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "ENST00000554073.1:n.146-5195A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 4797,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000555597.1:c.-18+4797A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451624.1:n.-18+4797A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "ENST00000555835.2:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452245.1:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098988",
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "A",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001097577.2:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091046.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001091046.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA258090",
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "A",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001145.4:c.107A>T",
        "LRG_653t1:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001136.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 650,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282192.1:c.-18+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269121.1:n.-18+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282193.1:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269122.1:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 546,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_002937.4:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002928.1:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98,
          "endIntronDirection": "+",
          "endIntronOffset": 4797,
          "referenceAllele": "A",
          "start": 98,
          "startIntronDirection": "+",
          "startIntronOffset": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_194431.2:c.-18+4797A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919412.1:n.-18+4797A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_002937.5:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002928.1:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000555835.3:c.-17-5684A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002937.5:c.-17-5684A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452245.1:n.-17-5684A>T"
          },
          "RefSeq": {
            "hgvs": "NP_002928.1:n.-17-5684A>T"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA098988",
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001097577.3:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091046.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001091046.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397990.5:c.107A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001097577.3:c.107A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000381077.4:p.Gln36Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001091046.1:p.Gln36Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282192.2:c.-18+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269121.1:n.-18+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "endIntronDirection": "-",
          "endIntronOffset": 5683,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "-",
          "startIntronOffset": 5684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_001282193.2:c.-17-5684A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269122.1:n.-17-5684A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 4797,
          "referenceAllele": "A",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010047",
      "geneNCBI_id": 6038,
      "geneSymbol": "RNASE4",
      "hgvs": [
        "NM_194431.3:c.-18+4797A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_919412.1:n.-18+4797A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "A",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385271.1:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372200.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001372200.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "A",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385272.1:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372201.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001372201.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 262,
          "referenceAllele": "A",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385273.1:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372202.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001372202.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057243223",
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "A",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000483",
      "geneNCBI_id": 283,
      "geneSymbol": "ANG",
      "hgvs": [
        "NM_001385274.1:c.107A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001372203.1:p.Gln36Leu",
        "hgvsWellDefined": "NP_001372203.1:p.Gln36Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054482",
      "geneNCBI_id": 116435281,
      "geneSymbol": "EGILA",
      "hgvs": [
        "NR_174964.1:n.545T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785086"
    }
  ],
  "type": "nucleotide"
}