{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA361528621",
  "communityStandardTitle": [
    "NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2071864[alleleid]",
        "alleleId": 2071864,
        "preferredName": "NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2016504",
        "RCV": [
          "RCV002843932"
        ],
        "variationId": 2016504
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.140957054T>G?assembly=hg19",
        "id": "chr5:g.140957054T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.141577487T>G?assembly=hg38",
        "id": "chr5:g.141577487T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513754384",
        "rs": 2513754384
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-141577487-T-G?dataset=gnomad_r4",
        "id": "5-141577487-T-G",
        "variant": "5:141577487 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 141577487,
          "referenceAllele": "T",
          "start": 141577486
        }
      ],
      "hgvs": [
        "NC_000005.10:g.141577487T>G",
        "CM000667.2:g.141577487T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 140957054,
          "referenceAllele": "T",
          "start": 140957053
        }
      ],
      "hgvs": [
        "NC_000005.9:g.140957054T>G",
        "CM000667.1:g.140957054T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 140937238,
          "referenceAllele": "T",
          "start": 140937237
        }
      ],
      "hgvs": [
        "NC_000005.8:g.140937238T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46569,
          "referenceAllele": "A",
          "start": 46568
        }
      ],
      "hgvs": [
        "NG_011594.1:g.46569A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46569,
          "referenceAllele": "A",
          "start": 46568
        }
      ],
      "hgvs": [
        "NG_011594.2:g.46569A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1354,
          "referenceAllele": "A",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389054.8:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373706.4:p.Asp423Ala",
        "hgvsWellDefined": "ENSP00000373706.4:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.1268A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.1268A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Asp423Ala"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Asp423Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1245,
          "referenceAllele": "A",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000647330.1:c.1245A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494308.1:n.1245A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000647433.1:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494675.1:p.Asp423Ala",
        "hgvsWellDefined": "ENSP00000494675.1:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000253811.10:c.1136A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253811.7:p.Asp379Ala",
        "hgvsWellDefined": "ENSP00000253811.7:p.Asp379Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389054.7:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373706.4:p.Asp423Ala",
        "hgvsWellDefined": "ENSP00000373706.4:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389057.9:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373709.6:p.Asp414Ala",
        "hgvsWellDefined": "ENSP00000373709.6:p.Asp414Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000398557.8:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381565.5:p.Asp423Ala",
        "hgvsWellDefined": "ENSP00000381565.5:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278324"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "A",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000518047.5:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428268.2:p.Asp414Ala",
        "hgvsWellDefined": "ENSP00000428268.2:p.Asp414Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446234",
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "A",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.2:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Asp414Ala",
        "hgvsWellDefined": "NP_001073280.1:p.Asp414Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826948790",
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.1:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Asp423Ala",
        "hgvsWellDefined": "NP_001300936.1:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580331574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.4:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Asp423Ala",
        "hgvsWellDefined": "NP_005210.3:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "A",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537572.1:c.1232A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535874.1:p.Asp411Ala",
        "hgvsWellDefined": "XP_011535874.1:p.Asp411Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "A",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537573.1:c.1202A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535875.1:p.Asp401Ala",
        "hgvsWellDefined": "XP_011535875.1:p.Asp401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104537"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73,
          "endIntronDirection": "+",
          "endIntronOffset": 1174,
          "referenceAllele": "T",
          "start": 73,
          "startIntronDirection": "+",
          "startIntronOffset": 1173
        }
      ],
      "hgvs": [
        "XR_944362.1:n.73+1174T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454384.1:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310152.1:p.Asp423Ala",
        "hgvsWellDefined": "XP_024310152.1:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1333,
          "referenceAllele": "A",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454385.1:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310153.1:p.Asp414Ala",
        "hgvsWellDefined": "XP_024310153.1:p.Asp414Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454386.1:c.1232A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310154.1:p.Asp411Ala",
        "hgvsWellDefined": "XP_024310154.1:p.Asp411Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "A",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454387.1:c.1202A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310155.1:p.Asp401Ala",
        "hgvsWellDefined": "XP_024310155.1:p.Asp401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580331574",
      "coordinates": [
        {
          "allele": "C",
          "end": 1354,
          "referenceAllele": "A",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.5:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Asp423Ala",
        "hgvsWellDefined": "NP_005210.3:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666866",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.1268A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.1268A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Asp423Ala"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Asp423Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446234",
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "A",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.3:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Asp414Ala",
        "hgvsWellDefined": "NP_001073280.1:p.Asp414Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826948790",
      "coordinates": [
        {
          "allele": "C",
          "end": 1354,
          "referenceAllele": "A",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.2:c.1268A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Asp423Ala",
        "hgvsWellDefined": "NP_001300936.1:p.Asp423Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684120"
    }
  ],
  "type": "nucleotide"
}