{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1127288",
  "communityStandardTitle": [
    "NM_006118.4(HAX1):c.207A>T (p.Pro69=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=276724[alleleid]",
        "alleleId": 276724,
        "preferredName": "NM_006118.4(HAX1):c.207A>T (p.Pro69=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/292704",
        "RCV": [
          "RCV000502834",
          "RCV000532229",
          "RCV001702413",
          "RCV003930202"
        ],
        "variationId": 292704
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-154245965-A-T",
        "id": "1-154245965-A-T",
        "variant": "1:154245965 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154245965A>T?assembly=hg19",
        "id": "chr1:g.154245965A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.154273489A>T?assembly=hg38",
        "id": "chr1:g.154273489A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142150013",
        "rs": 142150013
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154245965-A-T?dataset=gnomad_r2_1",
        "id": "1-154245965-A-T",
        "variant": "1:154245965 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154273489-A-T?dataset=gnomad_r3",
        "id": "1-154273489-A-T",
        "variant": "1:154273489 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-154273489-A-T?dataset=gnomad_r4",
        "id": "1-154273489-A-T",
        "variant": "1:154273489 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 154273489,
          "referenceAllele": "A",
          "start": 154273488
        }
      ],
      "hgvs": [
        "NC_000001.11:g.154273489A>T",
        "CM000663.2:g.154273489A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 154245965,
          "referenceAllele": "A",
          "start": 154245964
        }
      ],
      "hgvs": [
        "NC_000001.10:g.154245965A>T",
        "CM000663.1:g.154245965A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 152512589,
          "referenceAllele": "A",
          "start": 152512588
        }
      ],
      "hgvs": [
        "NC_000001.9:g.152512589A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5927,
          "referenceAllele": "A",
          "start": 5926
        }
      ],
      "hgvs": [
        "NG_007369.1:g.5927A>T",
        "LRG_64:g.5927A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000435087.2:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394920.2:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "A",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000447768.7:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403848.2:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000459914.2:n.308A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "A",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000471326.6:n.883A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "A",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000477780.3:n.294A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000483970.7:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435088.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "A",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000531435.6:n.377A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "A",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696929.1:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512978.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696931.1:n.308A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696932.1:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512979.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "A",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696933.1:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512980.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696938.1:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512983.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "A",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696941.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512986.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "A",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696944.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512989.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "A",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696945.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512990.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 295,
          "referenceAllele": "A",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696965.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513004.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "A",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000696966.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513005.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "referenceAllele": "A",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000697592.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513356.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "A",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000697830.1:c.129A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513452.1:p.Pro43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000328703.12:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329002.7:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746929",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328703.12:c.207A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006118.4:c.207A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329002.7:p.Pro69="
          },
          "RefSeq": {
            "hgvs": "NP_006109.2:p.Pro69="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "A",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000328703.11:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329002.7:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 263,
          "referenceAllele": "A",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000435087.1:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394920.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 311,
          "referenceAllele": "A",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000447768.6:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403848.2:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000457918.6:c.63A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411448.2:p.Pro21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "A",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000471326.5:n.622A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 294,
          "referenceAllele": "A",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000477780.2:n.294A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000483970.6:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435088.1:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000531435.5:n.302A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 284,
          "referenceAllele": "A",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "ENST00000532105.1:c.-68-285A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433951.1:n.-68-285A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825330796",
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "A",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_001018837.1:c.63A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018238.1:p.Pro21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829629049",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "A",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_006118.3:c.207A>T",
        "LRG_64t1:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006109.2:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825330796",
      "coordinates": [
        {
          "allele": "T",
          "end": 158,
          "referenceAllele": "A",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_001018837.2:c.63A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018238.1:p.Pro21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829629049",
      "coordinates": [
        {
          "allele": "T",
          "end": 302,
          "referenceAllele": "A",
          "start": 301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016915",
      "geneNCBI_id": 10456,
      "geneSymbol": "HAX1",
      "hgvs": [
        "NM_006118.4:c.207A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006109.2:p.Pro69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696617",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328703.12:c.207A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006118.4:c.207A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000329002.7:p.Pro69="
          },
          "RefSeq": {
            "hgvs": "NP_006109.2:p.Pro69="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}