{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8700063",
  "communityStandardTitle": [
    "NM_000789.4(ACE):c.2328G>A (p.Thr776=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256309[alleleid]",
        "alleleId": 256309,
        "preferredName": "NM_000789.4(ACE):c.2328G>A (p.Thr776=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/256803",
        "RCV": [
          "RCV000278989",
          "RCV000251736",
          "RCV001689802",
          "RCV002259329"
        ],
        "variationId": 256803
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-61566031-G-A",
        "id": "17-61566031-G-A",
        "variant": "17:61566031 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.61566031G>A?assembly=hg19",
        "id": "chr17:g.61566031G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63488670G>A?assembly=hg38",
        "id": "chr17:g.63488670G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4343",
        "rs": 4343
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-61566031-G-A?dataset=gnomad_r2_1",
        "id": "17-61566031-G-A",
        "variant": "17:61566031 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63488670-G-A?dataset=gnomad_r3",
        "id": "17-63488670-G-A",
        "variant": "17:63488670 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63488670-G-A?dataset=gnomad_r4",
        "id": "17-63488670-G-A",
        "variant": "17:63488670 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 63488670,
          "referenceAllele": "G",
          "start": 63488669
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63488670G>A",
        "CM000679.2:g.63488670G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 61566031,
          "referenceAllele": "G",
          "start": 61566030
        }
      ],
      "hgvs": [
        "NC_000017.10:g.61566031G>A",
        "CM000679.1:g.61566031G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 58919763,
          "referenceAllele": "G",
          "start": 58919762
        }
      ],
      "hgvs": [
        "NC_000017.9:g.58919763G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16598,
          "referenceAllele": "G",
          "start": 16597
        }
      ],
      "hgvs": [
        "NG_011648.1:g.16598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.10:c.2328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Thr776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744043",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.2328G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.2328G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Thr776="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Thr776="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290863.10:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290863.6:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2352,
          "referenceAllele": "G",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000290866.9:c.2328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290866.4:p.Thr776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000413513.7:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392247.3:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000428043.5:c.2328G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397593.2:p.Thr776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "hgvs": [
        "ENST00000577647.2:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464149.1:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000578839.5:c.*398G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462110.2:n.*398G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 587,
          "referenceAllele": "G",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579204.1:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464629.1:n.587G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000579314.5:c.*57G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462599.1:n.*57G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582005.5:c.*248G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462002.1:n.*248G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000582761.1:c.96G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462909.1:p.Thr32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "ENST00000584865.5:n.274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825216738",
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.3:c.2328G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Thr776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006818"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826135441",
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.1:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830296389",
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.2:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2268,
          "referenceAllele": "G",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_005257110.1:c.1779G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257167.1:p.Thr593="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 759,
          "referenceAllele": "G",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.2:c.666G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:p.Thr222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "XM_006721737.3:c.666G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721800.2:p.Thr222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825216738",
      "coordinates": [
        {
          "allele": "A",
          "end": 2362,
          "referenceAllele": "G",
          "start": 2361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_000789.4:c.2328G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000780.1:p.Thr776="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290866.10:c.2328G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000789.4:c.2328G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290866.4:p.Thr776="
          },
          "RefSeq": {
            "hgvs": "NP_000780.1:p.Thr776="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826135441",
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001178057.2:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171528.1:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830296389",
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "G",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_152830.3:c.606G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_690043.1:p.Thr202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2030,
          "referenceAllele": "G",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382700.1:c.1761G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369629.1:p.Thr587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382701.1:c.1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369630.1:p.Thr492="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NM_001382702.1:c.258G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369631.1:p.Thr86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002707",
      "geneNCBI_id": 1636,
      "geneSymbol": "ACE",
      "hgvs": [
        "NR_168483.1:n.706G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732030"
    }
  ],
  "type": "nucleotide"
}