{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4012263", "communityStandardTitle": [ "NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299167[alleleid]", "alleleId": 299167, "preferredName": "NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/355499", "RCV": [ "RCV000263339", "RCV001821082", "RCV002058557" ], "variationId": 355499 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-135732663-T-A", "id": "6-135732663-T-A", "variant": "6:135732663 T / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135732663T>A?assembly=hg19", "id": "chr6:g.135732663T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.135411525T>A?assembly=hg38", "id": "chr6:g.135411525T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/538724792", "rs": 538724792 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135732663-T-A?dataset=gnomad_r2_1", "id": "6-135732663-T-A", "variant": "6:135732663 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135411525-T-A?dataset=gnomad_r3", "id": "6-135411525-T-A", "variant": "6:135411525 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-135411525-T-A?dataset=gnomad_r4", "id": "6-135411525-T-A", "variant": "6:135411525 T / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135411525, "referenceAllele": "T", "start": 135411524 } ], "hgvs": [ "NC_000006.12:g.135411525T>A", "CM000668.2:g.135411525T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135732663, "referenceAllele": "T", "start": 135732662 } ], "hgvs": [ "NC_000006.11:g.135732663T>A", "CM000668.1:g.135732663T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 135774356, "referenceAllele": "T", "start": 135774355 } ], "hgvs": [ "NC_000006.10:g.135774356T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 91241, "referenceAllele": "A", "start": 91240 } ], "hgvs": [ "NG_008643.1:g.91241A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001138" }, { "coordinates": [ { "allele": "T", "end": 91241, "referenceAllele": "A", "start": 91240 } ], "hgvs": [ "NG_008643.2:g.91241A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673506" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3143, "referenceAllele": "A", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.11:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Glu928Asp", "hgvsWellDefined": "ENSP00000265602.6:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS742857", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.2784A>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.2784A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Glu928Asp" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Glu928Asp" } } } }, { "coordinates": [ { "allele": "T", "end": 1836, "referenceAllele": "A", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.7:c.1836A>T" ], "proteinEffect": { "hgvs": "ENSP00000356773.3:p.Glu612Asp", "hgvsWellDefined": "ENSP00000356773.3:p.Glu612Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS750079" }, { "coordinates": [ { "allele": "T", "end": 457, "referenceAllele": "A", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000527681.2:c.457A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759043" }, { "coordinates": [ { "allele": "T", "end": 2969, "referenceAllele": "A", "start": 2968 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679434.1:c.2969A>T" ], "proteinEffect": { "hgvs": "ENSP00000505592.1:n.2969A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779065" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "A", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679450.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000506494.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000506494.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779081" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "A", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679476.1:c.469A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779107" }, { "coordinates": [ { "allele": "T", "end": 3364, "referenceAllele": "A", "start": 3363 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679589.1:c.*2812A>T" ], "proteinEffect": { "hgvs": "ENSP00000506644.1:n.*2812A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779217" }, { "coordinates": [ { "allele": "T", "end": 3146, "referenceAllele": "A", "start": 3145 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679622.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000506261.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000506261.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779250" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "A", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679668.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505364.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505364.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779295" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679672.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505697.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505697.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779299" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "A", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679711.1:c.956A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779338" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "A", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679742.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000504890.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000504890.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779367" }, { "coordinates": [ { "allele": "T", "end": 1275, "referenceAllele": "A", "start": 1274 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679890.1:n.1275A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779512" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679925.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505502.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505502.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779547" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "A", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000679943.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505663.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505663.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779565" }, { "coordinates": [ { "allele": "T", "end": 2739, "referenceAllele": "A", "start": 2738 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680119.1:c.2739A>T" ], "proteinEffect": { "hgvs": "ENSP00000506403.1:n.2739A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779740" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680184.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000506009.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000506009.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS779804" }, { "coordinates": [ { "allele": "T", "end": 2969, "referenceAllele": "A", "start": 2968 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680278.1:c.2969A>T" ], "proteinEffect": { "hgvs": "ENSP00000506153.1:n.2969A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS779898" }, { "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "A", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680337.1:c.283A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS779955" }, { "coordinates": [ { "allele": "T", "end": 5527, "referenceAllele": "A", "start": 5526 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680561.1:n.5527A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780176" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680656.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505297.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505297.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS780271" }, { "coordinates": [ { "allele": "T", "end": 2969, "referenceAllele": "A", "start": 2968 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680826.1:c.2969A>T" ], "proteinEffect": { "hgvs": "ENSP00000505224.1:n.2969A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780441" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "A", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680840.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505809.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505809.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS780455" }, { "coordinates": [ { "allele": "T", "end": 3195, "referenceAllele": "A", "start": 3194 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000680965.1:c.*238A>T" ], "proteinEffect": { "hgvs": "ENSP00000505398.1:n.*238A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS780579" }, { "coordinates": [ { "allele": "T", "end": 5734, "referenceAllele": "A", "start": 5733 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681022.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505121.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505121.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS780635" }, { "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "A", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681057.1:n.2240A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780670" }, { "coordinates": [ { "allele": "T", "end": 2631, "referenceAllele": "A", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681301.1:c.2631A>T" ], "proteinEffect": { "hgvs": "ENSP00000505093.1:p.Glu877Asp", "hgvsWellDefined": "ENSP00000505093.1:p.Glu877Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS780912" }, { "coordinates": [ { "allele": "T", "end": 3301, "referenceAllele": "A", "start": 3300 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681332.1:n.3301A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS780942" }, { "coordinates": [ { "allele": "T", "end": 3270, "referenceAllele": "A", "start": 3269 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681340.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505666.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505666.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS780950" }, { "coordinates": [ { "allele": "T", "end": 3486, "referenceAllele": "A", "start": 3485 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681365.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000506604.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000506604.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS780975" }, { "coordinates": [ { "allele": "T", "end": 2761, "referenceAllele": "A", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681477.1:c.*1571A>T" ], "proteinEffect": { "hgvs": "ENSP00000504989.1:n.*1571A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781084" }, { "coordinates": [ { "allele": "T", "end": 2653, "referenceAllele": "A", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681488.1:c.2653A>T" ], "proteinEffect": { "hgvs": "ENSP00000505884.1:n.2653A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781094" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681522.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000506005.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000506005.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS781128" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681670.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000504895.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000504895.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS781275" }, { "coordinates": [ { "allele": "T", "end": 2997, "referenceAllele": "A", "start": 2996 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681718.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505266.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505266.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS781322" }, { "coordinates": [ { "allele": "T", "end": 3288, "referenceAllele": "A", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681756.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000506505.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000506505.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS781359" }, { "coordinates": [ { "allele": "T", "end": 2784, "referenceAllele": "A", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681828.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000505608.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000505608.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS781430" }, { "coordinates": [ { "allele": "T", "end": 3287, "referenceAllele": "A", "start": 3286 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681841.1:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000504965.1:p.Glu928Asp", "hgvsWellDefined": "ENSP00000504965.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS781443" }, { "coordinates": [ { "allele": "T", "end": 2275, "referenceAllele": "A", "start": 2274 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681860.1:c.2275A>T" ], "proteinEffect": { "hgvs": "ENSP00000506250.1:n.2275A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS781462" }, { "coordinates": [ { "allele": "T", "end": 3252, "referenceAllele": "A", "start": 3251 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000681945.1:n.3252A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS781543" }, { "coordinates": [ { "allele": "T", "end": 3179, "referenceAllele": "A", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000265602.10:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000265602.6:p.Glu928Asp", "hgvsWellDefined": "ENSP00000265602.6:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS251779" }, { "coordinates": [ { "allele": "T", "end": 3063, "referenceAllele": "A", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000327035.10:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000322478.6:p.Glu928Asp", "hgvsWellDefined": "ENSP00000322478.6:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS258705" }, { "coordinates": [ { "allele": "T", "end": 1283, "referenceAllele": "A", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367799.6:c.1283A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS266583" }, { "coordinates": [ { "allele": "T", "end": 3001, "referenceAllele": "A", "start": 3000 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000367800.8:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000356774.4:p.Glu928Asp", "hgvsWellDefined": "ENSP00000356774.4:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS266584" }, { "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "A", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000457866.6:c.2784A>T" ], "proteinEffect": { "hgvs": "ENSP00000388650.2:p.Glu928Asp", "hgvsWellDefined": "ENSP00000388650.2:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS304145" }, { "coordinates": [ { "allele": "T", "end": 976, "referenceAllele": "A", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000475846.6:c.976A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS317041" }, { "coordinates": [ { "allele": "T", "end": 3091, "referenceAllele": "A", "start": 3090 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "ENST00000531788.5:c.*987A>T" ], "proteinEffect": { "hgvs": "ENSP00000432167.1:n.*987A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS356822" }, { "@id": "http://reg.genome.network/allele/PA2825783812", "coordinates": [ { "allele": "T", "end": 3021, "referenceAllele": "A", "start": 3020 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.1:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Glu928Asp", "hgvsWellDefined": "NP_001128302.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS012302" }, { "@id": "http://reg.genome.network/allele/PA2825784634", "coordinates": [ { "allele": "T", "end": 3168, "referenceAllele": "A", "start": 3167 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.1:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Glu928Asp", "hgvsWellDefined": "NP_001128303.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS012303" }, { "@id": "http://reg.genome.network/allele/PA2825785490", "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "A", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.1:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Glu928Asp", "hgvsWellDefined": "NP_001128304.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS012304" }, { "@id": "http://reg.genome.network/allele/PA645479028", "coordinates": [ { "allele": "T", "end": 3083, "referenceAllele": "A", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.4:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Glu928Asp", "hgvsWellDefined": "NP_060121.3:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS035075" }, { "coordinates": [ { "allele": "T", "end": 3302, "referenceAllele": "A", "start": 3301 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534212.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102912" }, { "coordinates": [ { "allele": "T", "end": 3069, "referenceAllele": "A", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534213.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102913" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535912.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534214.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534214.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102914" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535913.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534215.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534215.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102915" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535914.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534216.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534216.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102916" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535915.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534217.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534217.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102917" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535916.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534218.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534218.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS102918" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942488.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136769" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942489.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136770" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942490.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136771" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942491.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136772" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942493.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136773" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942494.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136774" }, { "coordinates": [ { "allele": "T", "end": 3077, "referenceAllele": "A", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_942495.1:n.3077A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS136775" }, { "@id": "http://reg.genome.network/allele/PA2827545856", "coordinates": [ { "allele": "T", "end": 3277, "referenceAllele": "A", "start": 3276 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.1:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Glu928Asp", "hgvsWellDefined": "NP_001337432.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS519388" }, { "@id": "http://reg.genome.network/allele/PA2827546723", "coordinates": [ { "allele": "T", "end": 3168, "referenceAllele": "A", "start": 3167 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.1:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Glu928Asp", "hgvsWellDefined": "NP_001337433.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS519389" }, { "coordinates": [ { "allele": "T", "end": 3344, "referenceAllele": "A", "start": 3343 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535910.3:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534212.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534212.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS552229" }, { "coordinates": [ { "allele": "T", "end": 3069, "referenceAllele": "A", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_011535911.3:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_011534213.1:p.Glu928Asp", "hgvsWellDefined": "XP_011534213.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS552230" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010978.2:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_016866467.1:p.Glu928Asp", "hgvsWellDefined": "XP_016866467.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS564926" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010979.2:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_016866468.1:p.Glu928Asp", "hgvsWellDefined": "XP_016866468.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS564927" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010980.2:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_016866469.1:p.Glu928Asp", "hgvsWellDefined": "XP_016866469.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS564928" }, { "coordinates": [ { "allele": "T", "end": 3120, "referenceAllele": "A", "start": 3119 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010981.2:c.2730A>T" ], "proteinEffect": { "hgvs": "XP_016866470.1:p.Glu910Asp", "hgvsWellDefined": "XP_016866470.1:p.Glu910Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS564929" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_017010984.2:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_016866473.1:p.Glu928Asp", "hgvsWellDefined": "XP_016866473.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS564930" }, { "coordinates": [ { "allele": "T", "end": 3024, "referenceAllele": "A", "start": 3023 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446479.1:c.2730A>T" ], "proteinEffect": { "hgvs": "XP_024302247.1:p.Glu910Asp", "hgvsWellDefined": "XP_024302247.1:p.Glu910Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580141" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XM_024446480.1:c.2784A>T" ], "proteinEffect": { "hgvs": "XP_024302248.1:p.Glu928Asp", "hgvsWellDefined": "XP_024302248.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580142" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743479.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592684" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743480.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592685" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743481.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592686" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743482.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592687" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743483.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592688" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743484.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592689" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743485.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592690" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743486.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592691" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743487.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592692" }, { "coordinates": [ { "allele": "T", "end": 3416, "referenceAllele": "A", "start": 3415 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743488.1:n.3416A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592693" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743489.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592694" }, { "coordinates": [ { "allele": "T", "end": 3174, "referenceAllele": "A", "start": 3173 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_001743490.2:n.3174A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS592695" }, { "coordinates": [ { "allele": "T", "end": 3055, "referenceAllele": "A", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956286.1:n.3055A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602448" }, { "coordinates": [ { "allele": "T", "end": 3055, "referenceAllele": "A", "start": 3054 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "XR_002956287.1:n.3055A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602449" }, { "@id": "http://reg.genome.network/allele/PA2825784634", "coordinates": [ { "allele": "T", "end": 3143, "referenceAllele": "A", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134831.2:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001128303.1:p.Glu928Asp", "hgvsWellDefined": "NP_001128303.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS663634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265602.11:c.2784A>T" }, "RefSeq": { "hgvs": "NM_001134831.2:c.2784A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265602.6:p.Glu928Asp" }, "RefSeq": { "hgvs": "NP_001128303.1:p.Glu928Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825783812", "coordinates": [ { "allele": "T", "end": 2996, "referenceAllele": "A", "start": 2995 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134830.2:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001128302.1:p.Glu928Asp", "hgvsWellDefined": "NP_001128302.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS712402" }, { "@id": "http://reg.genome.network/allele/PA2825785490", "coordinates": [ { "allele": "T", "end": 3058, "referenceAllele": "A", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001134832.2:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001128304.1:p.Glu928Asp", "hgvsWellDefined": "NP_001128304.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS712403" }, { "@id": "http://reg.genome.network/allele/PA2827545856", "coordinates": [ { "allele": "T", "end": 3252, "referenceAllele": "A", "start": 3251 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350503.2:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001337432.1:p.Glu928Asp", "hgvsWellDefined": "NP_001337432.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS719545" }, { "@id": "http://reg.genome.network/allele/PA2827546723", "coordinates": [ { "allele": "T", "end": 3143, "referenceAllele": "A", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_001350504.2:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_001337433.1:p.Glu928Asp", "hgvsWellDefined": "NP_001337433.1:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS719546" }, { "@id": "http://reg.genome.network/allele/PA645479028", "coordinates": [ { "allele": "T", "end": 3058, "referenceAllele": "A", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN021575", "geneNCBI_id": 54806, "geneSymbol": "AHI1", "hgvs": [ "NM_017651.5:c.2784A>T" ], "proteinEffect": { "hgvs": "NP_060121.3:p.Glu928Asp", "hgvsWellDefined": "NP_060121.3:p.Glu928Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS728243" } ], "type": "nucleotide" }