{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA369168756", "communityStandardTitle": [ "NM_000883.4(IMPDH1):c.984G>T (p.Gln328His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1383833[alleleid]", "alleleId": 1383833, "preferredName": "NM_000883.4(IMPDH1):c.984G>T (p.Gln328His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1388602", "RCV": [ "RCV001908409" ], "variationId": 1388602 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.128038558C>A?assembly=hg19", "id": "chr7:g.128038558C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.128398504C>A?assembly=hg38", "id": "chr7:g.128398504C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/886037911", "rs": 886037911 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 128398504, "referenceAllele": "C", "start": 128398503 } ], "hgvs": [ "NC_000007.14:g.128398504C>A", "CM000669.2:g.128398504C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 128038558, "referenceAllele": "C", "start": 128038557 } ], "hgvs": [ "NC_000007.13:g.128038558C>A", "CM000669.1:g.128038558C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 127825794, "referenceAllele": "C", "start": 127825793 } ], "hgvs": [ "NC_000007.12:g.127825794C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 16479, "referenceAllele": "G", "start": 16478 } ], "hgvs": [ "NG_009194.1:g.16479G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001473" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000348127.11:c.876G>T" ], "proteinEffect": { "hgvs": "ENSP00000265385.8:p.Gln292His", "hgvsWellDefined": "ENSP00000265385.8:p.Gln292His" }, "referenceSequence": "http://reg.genome.network/refseq/RS913970" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "G", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000484496.6:n.859G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS914142" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000338791.11:c.984G>T" ], "proteinEffect": { "hgvs": "ENSP00000345096.6:p.Gln328His", "hgvsWellDefined": "ENSP00000345096.6:p.Gln328His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747771", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338791.11:c.984G>T" }, "RefSeq": { "hgvs": "NM_000883.4:c.984G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345096.6:p.Gln328His" }, "RefSeq": { "hgvs": "NP_000874.2:p.Gln328His" } } } }, { "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "G", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000648462.1:c.616G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769995" }, { "coordinates": [ { "allele": "T", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000338791.10:c.984G>T" ], "proteinEffect": { "hgvs": "ENSP00000345096.6:p.Gln328His", "hgvsWellDefined": "ENSP00000345096.6:p.Gln328His" }, "referenceSequence": "http://reg.genome.network/refseq/RS260727" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000348127.10:c.876G>T" ], "proteinEffect": { "hgvs": "ENSP00000265385.8:p.Gln292His", "hgvsWellDefined": "ENSP00000265385.8:p.Gln292His" }, "referenceSequence": "http://reg.genome.network/refseq/RS262440" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000354269.9:c.954G>T" ], "proteinEffect": { "hgvs": "ENSP00000346219.5:p.Gln318His", "hgvsWellDefined": "ENSP00000346219.5:p.Gln318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS263064" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "G", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000419067.6:c.885G>T" ], "proteinEffect": { "hgvs": "ENSP00000399400.2:p.Gln295His", "hgvsWellDefined": "ENSP00000399400.2:p.Gln295His" }, "referenceSequence": "http://reg.genome.network/refseq/RS285703" }, { "coordinates": [ { "allele": "T", "end": 573, "referenceAllele": "G", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000468842.1:n.573G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS311664" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000469328.5:c.749G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS312032" }, { "coordinates": [ { "allele": "T", "end": 804, "referenceAllele": "G", "start": 803 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000470772.5:c.726G>T" ], "proteinEffect": { "hgvs": "ENSP00000417296.1:p.Gln242His", "hgvsWellDefined": "ENSP00000417296.1:p.Gln242His" }, "referenceSequence": "http://reg.genome.network/refseq/RS313130" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000480861.5:c.714G>T" ], "proteinEffect": { "hgvs": "ENSP00000420185.1:p.Gln238His", "hgvsWellDefined": "ENSP00000420185.1:p.Gln238His" }, "referenceSequence": "http://reg.genome.network/refseq/RS320907" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "G", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000484496.5:c.859G>T" ], "proteinEffect": { "hgvs": "ENSP00000418742.1:n.859G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS323738" }, { "coordinates": [ { "allele": "T", "end": 738, "referenceAllele": "G", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000496200.5:c.654G>T" ], "proteinEffect": { "hgvs": "ENSP00000420803.1:p.Gln218His", "hgvsWellDefined": "ENSP00000420803.1:p.Gln218His" }, "referenceSequence": "http://reg.genome.network/refseq/RS332734" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000497868.5:c.777G>T" ], "proteinEffect": { "hgvs": "ENSP00000419609.1:p.Gln259His", "hgvsWellDefined": "ENSP00000419609.1:p.Gln259His" }, "referenceSequence": "http://reg.genome.network/refseq/RS333999" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "G", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "ENST00000626419.2:c.726G>T" ], "proteinEffect": { "hgvs": "ENSP00000486056.1:p.Gln242His", "hgvsWellDefined": "ENSP00000486056.1:p.Gln242His" }, "referenceSequence": "http://reg.genome.network/refseq/RS406735" }, { "@id": "http://reg.genome.network/allele/PA645376477", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_000883.3:c.984G>T" ], "proteinEffect": { "hgvs": "NP_000874.2:p.Gln328His", "hgvsWellDefined": "NP_000874.2:p.Gln328His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006910" }, { "@id": "http://reg.genome.network/allele/PA2825548452", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001102605.1:c.954G>T" ], "proteinEffect": { "hgvs": "NP_001096075.1:p.Gln318His", "hgvsWellDefined": "NP_001096075.1:p.Gln318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS011007" }, { "@id": "http://reg.genome.network/allele/PA2825801981", "coordinates": [ { "allele": "T", "end": 835, "referenceAllele": "G", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142573.1:c.729G>T" ], "proteinEffect": { "hgvs": "NP_001136045.1:p.Gln243His", "hgvsWellDefined": "NP_001136045.1:p.Gln243His" }, "referenceSequence": "http://reg.genome.network/refseq/RS012978" }, { "@id": "http://reg.genome.network/allele/PA2825802628", "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142574.1:c.714G>T" ], "proteinEffect": { "hgvs": "NP_001136046.1:p.Gln238His", "hgvsWellDefined": "NP_001136046.1:p.Gln238His" }, "referenceSequence": "http://reg.genome.network/refseq/RS012979" }, { "@id": "http://reg.genome.network/allele/PA2825803259", "coordinates": [ { "allele": "T", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142575.1:c.654G>T" ], "proteinEffect": { "hgvs": "NP_001136047.1:p.Gln218His", "hgvsWellDefined": "NP_001136047.1:p.Gln218His" }, "referenceSequence": "http://reg.genome.network/refseq/RS012980" }, { "@id": "http://reg.genome.network/allele/PA2825803965", "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142576.1:c.885G>T" ], "proteinEffect": { "hgvs": "NP_001136048.1:p.Gln295His", "hgvsWellDefined": "NP_001136048.1:p.Gln295His" }, "referenceSequence": "http://reg.genome.network/refseq/RS012981" }, { "@id": "http://reg.genome.network/allele/PA2826894512", "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001304521.1:c.777G>T" ], "proteinEffect": { "hgvs": "NP_001291450.1:p.Gln259His", "hgvsWellDefined": "NP_001291450.1:p.Gln259His" }, "referenceSequence": "http://reg.genome.network/refseq/RS025748" }, { "@id": "http://reg.genome.network/allele/PA2830411550", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_183243.2:c.876G>T" ], "proteinEffect": { "hgvs": "NP_899066.1:p.Gln292His", "hgvsWellDefined": "NP_899066.1:p.Gln292His" }, "referenceSequence": "http://reg.genome.network/refseq/RS044251" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_005250314.1:c.753G>T" ], "proteinEffect": { "hgvs": "XP_005250371.1:p.Gln251His", "hgvsWellDefined": "XP_005250371.1:p.Gln251His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059143" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715967.1:c.984G>T" ], "proteinEffect": { "hgvs": "XP_006716030.1:p.Gln328His", "hgvsWellDefined": "XP_006716030.1:p.Gln328His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071438" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715968.1:c.954G>T" ], "proteinEffect": { "hgvs": "XP_006716031.1:p.Gln318His", "hgvsWellDefined": "XP_006716031.1:p.Gln318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071439" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715969.1:c.876G>T" ], "proteinEffect": { "hgvs": "XP_006716032.1:p.Gln292His", "hgvsWellDefined": "XP_006716032.1:p.Gln292His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071440" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "G", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715970.2:c.777G>T" ], "proteinEffect": { "hgvs": "XP_006716033.1:p.Gln259His", "hgvsWellDefined": "XP_006716033.1:p.Gln259His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071441" }, { "coordinates": [ { "allele": "T", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_006715971.1:c.753G>T" ], "proteinEffect": { "hgvs": "XP_006716034.1:p.Gln251His", "hgvsWellDefined": "XP_006716034.1:p.Gln251His" }, "referenceSequence": "http://reg.genome.network/refseq/RS071442" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "G", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_011516156.1:c.366G>T" ], "proteinEffect": { "hgvs": "XP_011514458.1:p.Gln122His", "hgvsWellDefined": "XP_011514458.1:p.Gln122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS083359" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "G", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_011516157.1:c.366G>T" ], "proteinEffect": { "hgvs": "XP_011514459.1:p.Gln122His", "hgvsWellDefined": "XP_011514459.1:p.Gln122His" }, "referenceSequence": "http://reg.genome.network/refseq/RS083360" }, { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_017012172.1:c.753G>T" ], "proteinEffect": { "hgvs": "XP_016867661.1:p.Gln251His", "hgvsWellDefined": "XP_016867661.1:p.Gln251His" }, "referenceSequence": "http://reg.genome.network/refseq/RS565830" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_017012173.1:c.954G>T" ], "proteinEffect": { "hgvs": "XP_016867662.1:p.Gln318His", "hgvsWellDefined": "XP_016867662.1:p.Gln318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS565831" }, { "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446755.1:c.954G>T" ], "proteinEffect": { "hgvs": "XP_024302523.1:p.Gln318His", "hgvsWellDefined": "XP_024302523.1:p.Gln318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580405" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446756.1:c.876G>T" ], "proteinEffect": { "hgvs": "XP_024302524.1:p.Gln292His", "hgvsWellDefined": "XP_024302524.1:p.Gln292His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580406" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446757.1:c.777G>T" ], "proteinEffect": { "hgvs": "XP_024302525.1:p.Gln259His", "hgvsWellDefined": "XP_024302525.1:p.Gln259His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580407" }, { "coordinates": [ { "allele": "T", "end": 1153, "referenceAllele": "G", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "XM_024446758.1:c.753G>T" ], "proteinEffect": { "hgvs": "XP_024302526.1:p.Gln251His", "hgvsWellDefined": "XP_024302526.1:p.Gln251His" }, "referenceSequence": "http://reg.genome.network/refseq/RS580408" }, { "@id": "http://reg.genome.network/allele/PA645376477", "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_000883.4:c.984G>T" ], "proteinEffect": { "hgvs": "NP_000874.2:p.Gln328His", "hgvsWellDefined": "NP_000874.2:p.Gln328His" }, "referenceSequence": "http://reg.genome.network/refseq/RS662626", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000338791.11:c.984G>T" }, "RefSeq": { "hgvs": "NM_000883.4:c.984G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000345096.6:p.Gln328His" }, "RefSeq": { "hgvs": "NP_000874.2:p.Gln328His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825548452", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "G", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001102605.2:c.954G>T" ], "proteinEffect": { "hgvs": "NP_001096075.1:p.Gln318His", "hgvsWellDefined": "NP_001096075.1:p.Gln318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676605" }, { "@id": "http://reg.genome.network/allele/PA2825801981", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "G", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142573.2:c.729G>T" ], "proteinEffect": { "hgvs": "NP_001136045.1:p.Gln243His", "hgvsWellDefined": "NP_001136045.1:p.Gln243His" }, "referenceSequence": "http://reg.genome.network/refseq/RS677572" }, { "@id": "http://reg.genome.network/allele/PA2825802628", "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "G", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142574.2:c.714G>T" ], "proteinEffect": { "hgvs": "NP_001136046.1:p.Gln238His", "hgvsWellDefined": "NP_001136046.1:p.Gln238His" }, "referenceSequence": "http://reg.genome.network/refseq/RS677573" }, { "@id": "http://reg.genome.network/allele/PA2825803259", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142575.2:c.654G>T" ], "proteinEffect": { "hgvs": "NP_001136047.1:p.Gln218His", "hgvsWellDefined": "NP_001136047.1:p.Gln218His" }, "referenceSequence": "http://reg.genome.network/refseq/RS677574" }, { "@id": "http://reg.genome.network/allele/PA2825803965", "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "G", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001142576.2:c.885G>T" ], "proteinEffect": { "hgvs": "NP_001136048.1:p.Gln295His", "hgvsWellDefined": "NP_001136048.1:p.Gln295His" }, "referenceSequence": "http://reg.genome.network/refseq/RS677575" }, { "@id": "http://reg.genome.network/allele/PA2826894512", "coordinates": [ { "allele": "T", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_001304521.2:c.777G>T" ], "proteinEffect": { "hgvs": "NP_001291450.1:p.Gln259His", "hgvsWellDefined": "NP_001291450.1:p.Gln259His" }, "referenceSequence": "http://reg.genome.network/refseq/RS683712" }, { "@id": "http://reg.genome.network/allele/PA2830411550", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN006052", "geneNCBI_id": 3614, "geneSymbol": "IMPDH1", "hgvs": [ "NM_183243.3:c.876G>T" ], "proteinEffect": { "hgvs": "NP_899066.1:p.Gln292His", "hgvsWellDefined": "NP_899066.1:p.Gln292His" }, "referenceSequence": "http://reg.genome.network/refseq/RS701171" } ], "type": "nucleotide" }