{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4414922",
  "communityStandardTitle": [
    "NM_006989.6(RASA4):c.834C>T (p.His278=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2826077[alleleid]",
        "alleleId": 2826077,
        "preferredName": "NM_006989.6(RASA4):c.834C>T (p.His278=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2657886",
        "RCV": [
          "RCV003434067"
        ],
        "variationId": 2657886
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-102236480-G-A",
        "id": "7-102236480-G-A",
        "variant": "7:102236480 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.102236480G>A?assembly=hg19",
        "id": "chr7:g.102236480G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.102596033G>A?assembly=hg38",
        "id": "chr7:g.102596033G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778074471",
        "rs": 778074471
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-102236480-G-A?dataset=gnomad_r2_1",
        "id": "7-102236480-G-A",
        "variant": "7:102236480 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-102596033-G-A?dataset=gnomad_r3",
        "id": "7-102596033-G-A",
        "variant": "7:102596033 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-102596033-G-A?dataset=gnomad_r4",
        "id": "7-102596033-G-A",
        "variant": "7:102596033 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 102596033,
          "referenceAllele": "G",
          "start": 102596032
        }
      ],
      "hgvs": [
        "NC_000007.14:g.102596033G>A",
        "CM000669.2:g.102596033G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 102236480,
          "referenceAllele": "G",
          "start": 102236479
        }
      ],
      "hgvs": [
        "NC_000007.13:g.102236480G>A",
        "CM000669.1:g.102236480G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000262940.12:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262940.8:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262940.12:c.834C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006989.6:c.834C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262940.8:p.His278="
          },
          "RefSeq": {
            "hgvs": "NP_008920.5:p.His278="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000262940.11:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262940.7:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000449970.6:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412876.2:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000461209.5:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420352.1:p.His206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000462172.5:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417395.1:p.His206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000519539.5:c.375C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "hgvs": [
        "ENST00000519541.1:c.*724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429397.1:n.*724C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000522801.5:c.777C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430418.1:p.His259="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "ENST00000523568.5:n.819C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349920"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460590",
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "NM_001079877.2:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073346.2:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829682527",
      "coordinates": [
        {
          "allele": "T",
          "end": 903,
          "referenceAllele": "C",
          "start": 902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "NM_006989.5:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008920.5:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XM_005250104.1:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250161.1:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XM_011515723.1:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514025.1:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_428164.1:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_927325.1:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XM_017011661.2:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867150.1:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XM_017011662.2:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867151.1:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_001744508.2:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_001744509.2:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_001744510.2:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_001744511.2:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_001744512.2:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_002956404.1:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "XR_428164.3:n.902C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829682527",
      "coordinates": [
        {
          "allele": "T",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023181",
      "geneNCBI_id": 10156,
      "geneSymbol": "RASA4",
      "hgvs": [
        "NM_006989.6:c.834C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008920.5:p.His278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262940.12:c.834C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006989.6:c.834C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262940.8:p.His278="
          },
          "RefSeq": {
            "hgvs": "NP_008920.5:p.His278="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}