{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA403240249",
  "communityStandardTitle": [
    "NM_000479.5(AMH):c.563G>A (p.Cys188Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975671[alleleid]",
        "alleleId": 975671,
        "preferredName": "NM_000479.5(AMH):c.563G>A (p.Cys188Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987678",
        "RCV": [
          "RCV001268948"
        ],
        "variationId": 987678
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2250658G>A?assembly=hg19",
        "id": "chr19:g.2250658G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2250659G>A?assembly=hg38",
        "id": "chr19:g.2250659G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2025018868",
        "rs": 2025018868
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2250659-G-A?dataset=gnomad_r4",
        "id": "19-2250659-G-A",
        "variant": "19:2250659 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2250659,
          "referenceAllele": "G",
          "start": 2250658
        }
      ],
      "hgvs": [
        "NC_000019.10:g.2250659G>A",
        "CM000681.2:g.2250659G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2250658,
          "referenceAllele": "G",
          "start": 2250657
        }
      ],
      "hgvs": [
        "NC_000019.9:g.2250658G>A",
        "CM000681.1:g.2250658G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2201658,
          "referenceAllele": "G",
          "start": 2201657
        }
      ],
      "hgvs": [
        "NC_000019.8:g.2201658G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6546,
          "referenceAllele": "G",
          "start": 6545
        }
      ],
      "hgvs": [
        "NG_012190.1:g.6546G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10765,
          "referenceAllele": "C",
          "start": 10764
        }
      ],
      "hgvs": [
        "NG_032853.1:g.10765C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005239"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "ENST00000221496.5:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221496.2:p.Cys188Tyr",
        "hgvsWellDefined": "ENSP00000221496.2:p.Cys188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740511",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221496.5:c.563G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000479.5:c.563G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221496.2:p.Cys188Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000470.3:p.Cys188Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "ENST00000221496.4:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221496.2:p.Cys188Tyr",
        "hgvsWellDefined": "ENSP00000221496.2:p.Cys188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 916,
          "referenceAllele": "G",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "ENST00000589313.2:n.916G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "ENST00000592877.1:n.444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 782,
          "referenceAllele": "G",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "NM_000479.3:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000470.2:p.Cys188Tyr",
        "hgvsWellDefined": "NP_000470.2:p.Cys188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21,
          "referenceAllele": "G",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN038244",
      "geneNCBI_id": 100423031,
      "geneSymbol": "MIR4321",
      "hgvs": [
        "NR_036207.1:n.21G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "referenceAllele": "G",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "NM_000479.4:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000470.2:p.Cys188Tyr",
        "hgvsWellDefined": "NP_000470.2:p.Cys188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139676998",
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "referenceAllele": "G",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "NM_000479.5:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000470.3:p.Cys188Tyr",
        "hgvsWellDefined": "NP_000470.3:p.Cys188Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221496.5:c.563G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000479.5:c.563G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221496.2:p.Cys188Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000470.3:p.Cys188Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}