{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1141580779", "communityStandardTitle": [ "NM_000374.5(UROD):c.932A= (p.Tyr311=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121918061", "rs": 121918061 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45014996, "referenceAllele": "A", "start": 45014995 } ], "hgvs": [ "NC_000001.11:g.45014996A=", "CM000663.2:g.45014996A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45480668, "referenceAllele": "A", "start": 45480667 } ], "hgvs": [ "NC_000001.10:g.45480668A=", "CM000663.1:g.45480668A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45253255, "referenceAllele": "A", "start": 45253254 } ], "hgvs": [ "NC_000001.9:g.45253255A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 7839, "referenceAllele": "A", "start": 7838 } ], "hgvs": [ "NG_007122.2:g.7839A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000496" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "T", "start": 1359 } ], "hgvs": [ "NG_033058.1:g.1360T=" ], "referenceSequence": "http://reg.genome.network/refseq/RS005390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000246337.9:c.932A=" ], "proteinEffect": { "hgvs": "ENSP00000246337.4:p.Tyr311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS741293", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000246337.9:c.932A=" }, "RefSeq": { "hgvs": "NM_000374.5:c.932A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000246337.4:p.Tyr311=" }, "RefSeq": { "hgvs": "NP_000365.3:p.Tyr311=" } } } }, { "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "A", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000491773.6:c.689A=" ], "proteinEffect": { "hgvs": "ENSP00000498551.1:p.Tyr230=" }, "referenceSequence": "http://reg.genome.network/refseq/RS757688" }, { "coordinates": [ { "allele": "A", "end": 853, "referenceAllele": "A", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000636293.1:c.794A=" ], "proteinEffect": { "hgvs": "ENSP00000490710.1:p.Tyr265=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763015" }, { "coordinates": [ { "allele": "A", "end": 934, "endIntronDirection": "+", "endIntronOffset": 160, "referenceAllele": "A", "start": 934, "startIntronDirection": "+", "startIntronOffset": 159 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000636836.1:c.875+160A=" ], "proteinEffect": { "hgvs": "ENSP00000490594.1:n.875+160A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS763417" }, { "coordinates": [ { "allele": "A", "end": 1086, "referenceAllele": "A", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000651476.1:c.827A=" ], "proteinEffect": { "hgvs": "ENSP00000498668.1:p.Tyr276=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771689" }, { "coordinates": [ { "allele": "A", "end": 1960, "referenceAllele": "A", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000652165.1:c.689A=" ], "proteinEffect": { "hgvs": "ENSP00000498295.1:p.Tyr230=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772055" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000652287.1:c.869A=" ], "proteinEffect": { "hgvs": "ENSP00000498413.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772122" }, { "coordinates": [ { "allele": "A", "end": 893, "referenceAllele": "A", "start": 892 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000652514.1:c.893A=" ], "proteinEffect": { "hgvs": "ENSP00000498635.1:n.893A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS772251" }, { "coordinates": [ { "allele": "A", "end": 1051, "referenceAllele": "A", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000246337.8:c.932A=" ], "proteinEffect": { "hgvs": "ENSP00000246337.4:p.Tyr311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS249451" }, { "coordinates": [ { "allele": "A", "end": 347, "referenceAllele": "A", "start": 346 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000465678.1:n.347A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS309234" }, { "coordinates": [ { "allele": "A", "end": 458, "referenceAllele": "A", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000466193.1:n.458A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS309626" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000472254.1:n.685A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS314275" }, { "coordinates": [ { "allele": "A", "end": 1599, "referenceAllele": "A", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "ENST00000494399.5:n.1599A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS331340" }, { "@id": "http://reg.genome.network/allele/PA3063916341", "coordinates": [ { "allele": "A", "end": 1065, "referenceAllele": "A", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "NM_000374.4:c.932A=" ], "proteinEffect": { "hgvs": "NP_000365.3:p.Tyr311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006436" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "A", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "NR_036510.1:n.1115A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS049751" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "A", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "XM_005271169.1:c.716A=" ], "proteinEffect": { "hgvs": "XP_005271226.1:p.Tyr239=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066793" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "A", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "XM_005271170.1:c.716A=" ], "proteinEffect": { "hgvs": "XP_005271227.1:p.Tyr239=" }, "referenceSequence": "http://reg.genome.network/refseq/RS066794" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "A", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "XM_011542080.1:c.869A=" ], "proteinEffect": { "hgvs": "XP_011540382.1:p.Tyr290=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109014" }, { "coordinates": [ { "allele": "A", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "XM_011542081.1:c.764A=" ], "proteinEffect": { "hgvs": "XP_011540383.1:p.Tyr255=" }, "referenceSequence": "http://reg.genome.network/refseq/RS109015" }, { "@id": "http://reg.genome.network/allele/PA3063916341", "coordinates": [ { "allele": "A", "end": 944, "referenceAllele": "A", "start": 943 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "NM_000374.5:c.932A=" ], "proteinEffect": { "hgvs": "NP_000365.3:p.Tyr311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510783", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000246337.9:c.932A=" }, "RefSeq": { "hgvs": "NM_000374.5:c.932A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000246337.4:p.Tyr311=" }, "RefSeq": { "hgvs": "NP_000365.3:p.Tyr311=" } } } }, { "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "A", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "NR_158184.1:n.1013A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS532093" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "A", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "NR_158185.1:n.963A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS532094" }, { "coordinates": [ { "allele": "A", "end": 994, "referenceAllele": "A", "start": 993 } ], "gene": "http://reg.genome.network/gene/GN012591", "geneNCBI_id": 7389, "geneSymbol": "UROD", "hgvs": [ "NR_036510.2:n.994A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702213" } ], "type": "nucleotide" }