{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16616790", "communityStandardTitle": [ "NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224771[alleleid]", "alleleId": 224771, "preferredName": "NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223046", "RCV": [ "RCV000208710", "RCV001853326" ], "variationId": 223046 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50965040C>T?assembly=hg19", "id": "chr22:g.50965040C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50526611C>T?assembly=hg38", "id": "chr22:g.50526611C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792872", "rs": 1064792872 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/22-50526611-C-T?dataset=gnomad_r4", "id": "22-50526611-C-T", "variant": "22:50526611 C / T" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50526611, "referenceAllele": "C", "start": 50526610 } ], "hgvs": [ "NC_000022.11:g.50526611C>T", "CM000684.2:g.50526611C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 50965040, "referenceAllele": "C", "start": 50965039 } ], "hgvs": [ "NC_000022.10:g.50965040C>T", "CM000684.1:g.50965040C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "T", "end": 49311906, "referenceAllele": "C", "start": 49311905 } ], "hgvs": [ "NC_000022.9:g.49311906C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "A", "end": 8475, "referenceAllele": "G", "start": 8474 } ], "hgvs": [ "NG_011860.1:g.8475G>A", "LRG_727:g.8475G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002037" }, { "coordinates": [ { "allele": "A", "end": 4829, "referenceAllele": "G", "start": 4828 } ], "hgvs": [ "NG_016235.1:g.4829G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003035" }, { "coordinates": [ { "allele": "T", "end": 23396, "referenceAllele": "C", "start": 23395 } ], "hgvs": [ "NG_021419.1:g.23396C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003644" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.8:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Gly298Asp", "hgvsWellDefined": "ENSP00000252029.3:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS741506", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.893G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.893G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Gly298Asp" }, "RefSeq": { "hgvs": "NP_001944.1:p.Gly298Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 1047, "referenceAllele": "G", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.6:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Gly298Asp", "hgvsWellDefined": "ENSP00000379037.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS753424" }, { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.6:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Gly298Asp", "hgvsWellDefined": "ENSP00000379038.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS753425" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "G", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000650719.1:c.774G>A" ], "proteinEffect": { "hgvs": "ENSP00000498276.1:p.Arg258=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771271" }, { "coordinates": [ { "allele": "A", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000651401.1:c.377G>A" ], "proteinEffect": { "hgvs": "ENSP00000499115.1:p.Gly126Asp", "hgvsWellDefined": "ENSP00000499115.1:p.Gly126Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS771647" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000652401.1:c.394G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772190" }, { "coordinates": [ { "allele": "A", "end": 1056, "referenceAllele": "G", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000252029.7:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000252029.3:p.Gly298Asp", "hgvsWellDefined": "ENSP00000252029.3:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS249780" }, { "coordinates": [ { "allele": "A", "end": 1044, "referenceAllele": "G", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395678.7:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000379036.3:p.Gly298Asp", "hgvsWellDefined": "ENSP00000379036.3:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS276828" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "G", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395680.5:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000379037.1:p.Gly298Asp", "hgvsWellDefined": "ENSP00000379037.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS276830" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000395681.5:c.893G>A" ], "proteinEffect": { "hgvs": "ENSP00000379038.1:p.Gly298Asp", "hgvsWellDefined": "ENSP00000379038.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS276831" }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000425169.1:c.794G>A" ], "proteinEffect": { "hgvs": "ENSP00000395875.1:p.Gly265Asp", "hgvsWellDefined": "ENSP00000395875.1:p.Gly265Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS288630" }, { "coordinates": [ { "allele": "A", "end": 899, "referenceAllele": "G", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000476284.1:n.899G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317377" }, { "coordinates": [ { "allele": "A", "end": 1180, "referenceAllele": "G", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "ENST00000487577.5:n.1180G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS326112" }, { "@id": "http://reg.genome.network/allele/PA2825567932", "coordinates": [ { "allele": "A", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.2:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Gly298Asp", "hgvsWellDefined": "NP_001107227.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS011278" }, { "@id": "http://reg.genome.network/allele/PA2825568478", "coordinates": [ { "allele": "A", "end": 1269, "referenceAllele": "G", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.2:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Gly298Asp", "hgvsWellDefined": "NP_001107228.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS011279" }, { "@id": "http://reg.genome.network/allele/PA2826449547", "coordinates": [ { "allele": "A", "end": 1120, "referenceAllele": "G", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257988.1:c.893G>A", "LRG_727t1:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001244917.1:p.Gly298Asp", "hgvsWellDefined": "NP_001244917.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS019659" }, { "@id": "http://reg.genome.network/allele/PA2826450057", "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001257989.1:c.893G>A", "LRG_727t2:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001244918.1:p.Gly298Asp", "hgvsWellDefined": "NP_001244918.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS019660" }, { "@id": "http://reg.genome.network/allele/PA645407271", "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.4:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Gly298Asp", "hgvsWellDefined": "NP_001944.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS027279" }, { "@id": "http://reg.genome.network/allele/PA2825567932", "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113755.3:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001107227.1:p.Gly298Asp", "hgvsWellDefined": "NP_001107227.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676724" }, { "@id": "http://reg.genome.network/allele/PA2825568478", "coordinates": [ { "allele": "A", "end": 1196, "referenceAllele": "G", "start": 1195 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001113756.3:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001107228.1:p.Gly298Asp", "hgvsWellDefined": "NP_001107228.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676725" }, { "@id": "http://reg.genome.network/allele/PA645407271", "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN003148", "geneNCBI_id": 1890, "geneSymbol": "TYMP", "hgvs": [ "NM_001953.5:c.893G>A" ], "proteinEffect": { "hgvs": "NP_001944.1:p.Gly298Asp", "hgvsWellDefined": "NP_001944.1:p.Gly298Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS695409", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000252029.8:c.893G>A" }, "RefSeq": { "hgvs": "NM_001953.5:c.893G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000252029.3:p.Gly298Asp" }, "RefSeq": { "hgvs": "NP_001944.1:p.Gly298Asp" } } } } ], "type": "nucleotide" }