{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345151023",
  "communityStandardTitle": [
    "NM_001100.4(ACTA1):c.143G>T (p.Gly48Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=823510[alleleid]",
        "alleleId": 823510,
        "preferredName": "NM_001100.4(ACTA1):c.143G>T (p.Gly48Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/843072",
        "RCV": [
          "RCV001045609"
        ],
        "variationId": 843072
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.229568614C>A?assembly=hg19",
        "id": "chr1:g.229568614C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.229432867C>A?assembly=hg38",
        "id": "chr1:g.229432867C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367543049",
        "rs": 367543049
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 229432867,
          "referenceAllele": "C",
          "start": 229432866
        }
      ],
      "hgvs": [
        "NC_000001.11:g.229432867C>A",
        "CM000663.2:g.229432867C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 229568614,
          "referenceAllele": "C",
          "start": 229568613
        }
      ],
      "hgvs": [
        "NC_000001.10:g.229568614C>A",
        "CM000663.1:g.229568614C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 227635237,
          "referenceAllele": "C",
          "start": 227635236
        }
      ],
      "hgvs": [
        "NC_000001.9:g.227635237C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6230,
          "referenceAllele": "G",
          "start": 6229
        }
      ],
      "hgvs": [
        "NG_006672.1:g.6230G>T",
        "LRG_429:g.6230G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000440"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.4:c.143G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.4:p.Gly48Val",
        "hgvsWellDefined": "ENSP00000355644.4:p.Gly48Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000684723.1:c.8G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508084.1:p.Gly3Val",
        "hgvsWellDefined": "ENSP00000508084.1:p.Gly3Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366683.3:c.143G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355644.3:p.Gly48Val",
        "hgvsWellDefined": "ENSP00000355644.3:p.Gly48Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "ENST00000366684.7:c.143G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355645.3:p.Gly48Val",
        "hgvsWellDefined": "ENSP00000355645.3:p.Gly48Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.143G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.143G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Gly48Val"
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Gly48Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139684228",
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.3:c.143G>T",
        "LRG_429t1:c.143G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Gly48Val",
        "hgvsWellDefined": "NP_001091.1:p.Gly48Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139684228",
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "G",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NM_001100.4:c.143G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001091.1:p.Gly48Val",
        "hgvsWellDefined": "NP_001091.1:p.Gly48Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366684.7:c.143G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001100.4:c.143G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355645.3:p.Gly48Val"
          },
          "RefSeq": {
            "hgvs": "NP_001091.1:p.Gly48Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}