{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1442703",
  "communityStandardTitle": [
    "NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=447811[alleleid]",
        "alleleId": 447811,
        "preferredName": "NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/464116",
        "RCV": [
          "RCV000546819",
          "RCV001096304",
          "RCV001096305"
        ],
        "variationId": 464116
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-229567255-T-C",
        "id": "1-229567255-T-C",
        "variant": "1:229567255 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.229567255T>C?assembly=hg19",
        "id": "chr1:g.229567255T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.229431508T>C?assembly=hg38",
        "id": "chr1:g.229431508T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142311664",
        "rs": 142311664
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-229567255-T-C?dataset=gnomad_r2_1",
        "id": "1-229567255-T-C",
        "variant": "1:229567255 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-229431508-T-C?dataset=gnomad_r3",
        "id": "1-229431508-T-C",
        "variant": "1:229431508 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-229431508-T-C?dataset=gnomad_r4",
        "id": "1-229431508-T-C",
        "variant": "1:229431508 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 229431508,
          "referenceAllele": "T",
          "start": 229431507
        }
      ],
      "hgvs": [
        "NC_000001.11:g.229431508T>C",
        "CM000663.2:g.229431508T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 229567255,
          "referenceAllele": "T",
          "start": 229567254
        }
      ],
      "hgvs": [
        "NC_000001.10:g.229567255T>C",
        "CM000663.1:g.229567255T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 227633878,
          "referenceAllele": "T",
          "start": 227633877
        }
      ],
      "hgvs": [
        "NC_000001.9:g.227633878T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7589,
          "referenceAllele": "A",
          "start": 7588
        }
      ],
      "hgvs": [
        "NG_006672.1:g.7589A>G",
        "LRG_429:g.7589A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000440"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1160,
          "referenceAllele": "A",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.4:c.1047A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.4:p.Lys349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "referenceAllele": "A",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000684723.1:c.990A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508084.1:p.Lys330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.3:c.756A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.3:p.Lys252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "A",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366684.7:c.1125A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355645.3:p.Lys375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.1125A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.1125A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Lys375="
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Lys375="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492377",
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "referenceAllele": "A",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.3:c.1125A>G",
        "LRG_429t1:c.1125A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Lys375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492377",
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "A",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.4:c.1125A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Lys375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.1125A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.1125A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Lys375="
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Lys375="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}