{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA323181", "communityStandardTitle": [ "NM_001953.5(TYMP):c.437G>A (p.Arg146His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211989[alleleid]", "alleleId": 211989, "preferredName": "NM_001953.5(TYMP):c.437G>A (p.Arg146His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215332", "RCV": [ "RCV000198648", "RCV000666806", "RCV001833157" ], "variationId": 215332 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/22-50967020-C-T", "id": "22-50967020-C-T", "variant": "22:50967020 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50967020C>T?assembly=hg19", "id": "chr22:g.50967020C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50528591C>T?assembly=hg38", "id": "chr22:g.50528591C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/188802138", "rs": 188802138 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50967020-C-T?dataset=gnomad_r2_1", "id": "22-50967020-C-T", "variant": "22:50967020 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50528591-C-T?dataset=gnomad_r3", "id": "22-50528591-C-T", "variant": "22:50528591 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50528591-C-T?dataset=gnomad_r4", "id": "22-50528591-C-T", "variant": "22:50528591 C / T" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50528591, "referenceAllele": "C", "start": 50528590 } ], "hgvs": [ "NC_000022.11:g.50528591C>T", "CM000684.2:g.50528591C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50967020, "referenceAllele": "C", "start": 50967019 } ], "hgvs": [ "NC_000022.10:g.50967020C>T", "CM000684.1:g.50967020C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 49313886, "referenceAllele": "C", "start": 49313885 } ], "hgvs": [ "NC_000022.9:g.49313886C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 6495, "referenceAllele": "G", "start": 6494 } ], "hgvs": [ "NG_011860.1:g.6495G>A", "LRG_727:g.6495G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002037" }, { "coordinates": [ { "allele": "A", "end": 2849, "referenceAllele": "G", "start": 2848 } ], "hgvs": [ "NG_016235.1:g.2849G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003035" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.8:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Arg146His", "hgvsWellDefined": "ENSP00000252029.3:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS741506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.437G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.437G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Arg146His" }, "RefSeq": { "hgvs": "NP_001944.1:p.Arg146His" } } } }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "G", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.6:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Arg146His", "hgvsWellDefined": "ENSP00000379037.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753424" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.6:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Arg146His", "hgvsWellDefined": "ENSP00000379038.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753425" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000650719.1:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000498276.1:p.Arg146His", "hgvsWellDefined": "ENSP00000498276.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS771271" }, { "coordinates": [ { "allele": "A", "end": 108, "endIntronDirection": "-", "endIntronOffset": 873, "referenceAllele": "G", "start": 108, "startIntronDirection": "-", "startIntronOffset": 874 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651401.1:c.1-874G>A" ], "proteinEffect": { "hgvs": "ENSP00000499115.1:n.1-874G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771647" }, { "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651906.1:n.556G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771923" }, { "coordinates": [ { "allele": "A", "end": 165, "endIntronDirection": "-", "endIntronOffset": 17, "referenceAllele": "G", "start": 165, "startIntronDirection": "-", "startIntronOffset": 18 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652352.1:c.166-18G>A" ], "proteinEffect": { "hgvs": "ENSP00000498579.1:n.166-18G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS772157" }, { "coordinates": [ { "allele": "A", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.7:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Arg146His", "hgvsWellDefined": "ENSP00000252029.3:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS249780" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395678.7:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000379036.3:p.Arg146His", "hgvsWellDefined": "ENSP00000379036.3:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS276828" }, { "coordinates": [ { "allele": "A", "end": 578, "referenceAllele": "G", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.5:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Arg146His", "hgvsWellDefined": "ENSP00000379037.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS276830" }, { "coordinates": [ { "allele": "A", "end": 559, "referenceAllele": "G", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.5:c.437G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Arg146His", "hgvsWellDefined": "ENSP00000379038.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS276831" }, { "coordinates": [ { "allele": "A", "end": 514, "endIntronDirection": "+", "endIntronOffset": 545, "referenceAllele": "G", "start": 514, "startIntronDirection": "+", "startIntronOffset": 544 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000425169.1:c.417+545G>A" ], "proteinEffect": { "hgvs": "ENSP00000395875.1:n.417+545G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS288630" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000476284.1:n.562G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317377" }, { "coordinates": [ { "allele": "A", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487162.1:n.1250G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325791" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487577.5:n.724G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326112" }, { "@id": "http://reg.genome.network/allele/PA2825567788", "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.2:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Arg146His", "hgvsWellDefined": "NP_001107227.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568327", "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Arg146His", "hgvsWellDefined": "NP_001107228.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA323184", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "G", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.437G>A", "LRG_727t1:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Arg146His", "hgvsWellDefined": "NP_001244917.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA323185", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.437G>A", "LRG_727t2:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Arg146His", "hgvsWellDefined": "NP_001244918.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA323186", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Arg146His", "hgvsWellDefined": "NP_001944.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567788", "coordinates": [ { "allele": "A", "end": 568, "referenceAllele": "G", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Arg146His", "hgvsWellDefined": "NP_001107227.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568327", "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Arg146His", "hgvsWellDefined": "NP_001107228.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA323186", "coordinates": [ { "allele": "A", "end": 556, "referenceAllele": "G", "start": 555 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.437G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Arg146His", "hgvsWellDefined": "NP_001944.1:p.Arg146His" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.437G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.437G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Arg146His" }, "RefSeq": { "hgvs": "NP_001944.1:p.Arg146His" } } } } ], "type": "nucleotide" }