Canonical Allele Identifier: CA1018917257
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs2090841747
gnomAD v3: 20-58903643-C-A
gnomAD v4: 20-58903643-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903643C>A , CM000682.2:g.58903643C>A GRCh38
NC_000020.10:g.57478698C>A , CM000682.1:g.57478698C>A GRCh37
NC_000020.9:g.56912093C>A NCBI36
NG_016194.1:g.68904C>A
NG_016194.2:g.68904C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2197-29C>A ENSP00000265621.6:n.2197-29C>A
ENST00000419558.7:c.*171-29C>A ENSP00000416234.2:n.*171-29C>A
ENST00000453292.7:c.912-29C>A ENSP00000392000.2:n.912-29C>A
ENST00000462499.6:c.94-29C>A ENSP00000499758.2:n.94-29C>A
ENST00000464624.7:c.*155-29C>A ENSP00000499607.2:n.*155-29C>A
ENST00000464788.6:c.136-29C>A ENSP00000499239.2:n.136-29C>A
ENST00000467227.6:c.94-29C>A ENSP00000499681.2:n.94-29C>A
ENST00000467321.6:c.136-29C>A ENSP00000499523.2:n.136-29C>A
ENST00000468895.6:c.313-29C>A ENSP00000499551.2:n.313-29C>A
ENST00000469431.6:c.136-29C>A ENSP00000499654.2:n.136-29C>A
ENST00000470512.6:c.139-29C>A ENSP00000499552.2:n.139-29C>A
ENST00000472183.6:c.136-29C>A ENSP00000499673.2:n.136-29C>A
ENST00000475610.2:n.819-29C>A
ENST00000476935.6:c.91-29C>A ENSP00000499409.2:n.91-29C>A
ENST00000478585.6:c.94-29C>A ENSP00000499762.2:n.94-29C>A
ENST00000480232.6:c.139-29C>A ENSP00000499545.2:n.139-29C>A
ENST00000481039.6:c.94-29C>A ENSP00000499767.2:n.94-29C>A
ENST00000482112.6:c.91-29C>A ENSP00000499794.2:n.91-29C>A
ENST00000485673.6:c.94-29C>A ENSP00000499334.2:n.94-29C>A
ENST00000488546.6:c.94-29C>A ENSP00000499332.2:n.94-29C>A
ENST00000488652.6:c.136-29C>A ENSP00000499435.2:n.136-29C>A
ENST00000492907.6:c.94-29C>A ENSP00000499443.2:n.94-29C>A
ENST00000603546.2:c.136-29C>A ENSP00000474802.2:n.136-29C>A
ENST00000604005.6:c.136-29C>A ENSP00000474219.2:n.136-29C>A
ENST00000663479.2:c.139-29C>A ENSP00000499353.2:n.139-29C>A
ENST00000667293.2:c.136-29C>A ENSP00000499293.2:n.136-29C>A
ENST00000676826.2:c.2245-29C>A ENSP00000504675.2:n.2245-29C>A
ENST00000682092.1:n.819-29C>A
ENST00000682134.1:n.2239-29C>A
ENST00000682411.1:n.817-29C>A
ENST00000682590.1:n.819-29C>A
ENST00000682680.1:n.804C>A
ENST00000682803.1:c.-15-29C>A ENSP00000507069.1:n.-15-29C>A
ENST00000682829.1:n.2641-29C>A
ENST00000682917.1:n.812C>A
ENST00000682986.1:n.819-29C>A
ENST00000683015.1:c.1083-29C>A ENSP00000506815.1:n.1083-29C>A
ENST00000683632.1:n.828-29C>A
ENST00000683932.1:n.817-29C>A
ENST00000684284.1:n.2691-29C>A
ENST00000684466.1:n.819-29C>A
ENST00000684644.1:n.819-29C>A
ENST00000684761.1:n.819-29C>A
ENST00000306090.12:c.217-29C>A ENSP00000304472.12:n.217-29C>A
ENST00000349036.8:c.2197-29C>A ENSP00000265621.5:n.2197-29C>A
ENST00000354359.12:c.316-29C>A ENSP00000346328.7:n.316-29C>A
ENST00000371085.8:c.313-29C>A MANE Select ENSP00000360126.3:n.313-29C>A
ENST00000371100.9:c.2242-29C>A MANE Plus Clinical ENSP00000360141.3:n.2242-29C>A
ENST00000419558.6:c.*171-29C>A ENSP00000416234.2:n.*171-29C>A
ENST00000490374.6:n.478-29C>A
ENST00000657090.1:c.136-29C>A ENSP00000499380.1:n.136-29C>A
ENST00000663479.1:c.139-29C>A ENSP00000499353.1:n.139-29C>A
ENST00000667293.1:c.184-29C>A ENSP00000499293.1:n.184-29C>A
ENST00000676826.1:c.2245-29C>A ENSP00000504675.1:n.2245-29C>A
ENST00000265620.11:c.268-29C>A ENSP00000265620.7:n.268-29C>A
ENST00000306090.11:c.94-6124C>A ENSP00000304472.11:n.94-6124C>A
ENST00000313949.11:c.*216-29C>A ENSP00000323571.7:n.*216-29C>A
ENST00000349036.7:c.364-29C>A ENSP00000265621.4:n.364-29C>A
ENST00000354359.11:c.316-29C>A ENSP00000346328.7:n.316-29C>A
ENST00000371075.7:c.*219-29C>A MANE Plus Clinical ENSP00000360115.3:n.*219-29C>A
ENST00000371085.7:c.313-29C>A ENSP00000360126.3:n.313-29C>A
ENST00000371095.7:c.271-29C>A ENSP00000360136.3:n.271-29C>A
ENST00000371100.8:c.2242-29C>A ENSP00000360141.3:n.2242-29C>A
ENST00000371102.8:c.2200-29C>A ENSP00000360143.4:n.2200-29C>A
ENST00000419558.5:c.512-29C>A
ENST00000450130.5:c.356-29C>A
ENST00000462499.5:n.390-29C>A
ENST00000464624.6:n.2529-29C>A
ENST00000464788.5:n.241-29C>A
ENST00000467227.5:n.254-29C>A
ENST00000467321.5:n.328-29C>A
ENST00000468895.5:n.182-29C>A
ENST00000469431.5:n.430-29C>A
ENST00000470512.5:n.387-29C>A
ENST00000472183.5:n.565-29C>A
ENST00000476196.5:n.606-29C>A
ENST00000476935.5:n.302-29C>A
ENST00000477931.5:n.428-29C>A
ENST00000478585.5:n.326-29C>A
ENST00000480232.5:n.332-29C>A
ENST00000480975.5:n.312-29C>A
ENST00000481039.5:n.230-29C>A
ENST00000482112.5:n.387-29C>A
ENST00000485673.5:n.558-29C>A
ENST00000487862.5:n.547-29C>A
ENST00000487981.5:n.50-29C>A
ENST00000488546.5:n.172-29C>A
ENST00000488652.5:n.403-29C>A
ENST00000490374.5:n.431-29C>A
ENST00000492907.5:n.264-29C>A
ENST00000494081.5:n.56-29C>A
ENST00000496934.5:n.1602-29C>A
ENST00000603546.1:c.136-29C>A ENSP00000474802.1:n.136-29C>A
ENST00000604005.5:c.136-29C>A ENSP00000474219.1:n.136-29C>A
NM_000516.4:c.313-29C>A NP_000507.1:n.313-29C>A
NM_000516.5:c.313-29C>A NP_000507.1:n.313-29C>A
NM_001077488.2:c.316-29C>A NP_001070956.1:n.316-29C>A
NM_001077488.3:c.316-29C>A NP_001070956.1:n.316-29C>A
NM_001077489.2:c.268-29C>A NP_001070957.1:n.268-29C>A
NM_001077489.3:c.268-29C>A NP_001070957.1:n.268-29C>A
NM_001077490.1:c.*174-29C>A NP_001070958.1:n.*174-29C>A
NM_001077490.2:c.*174-29C>A NP_001070958.1:n.*174-29C>A
NM_001309840.1:c.136-29C>A NP_001296769.1:n.136-29C>A
NM_001309861.1:c.136-29C>A NP_001296790.1:n.136-29C>A
NM_016592.2:c.*219-29C>A NP_057676.1:n.*219-29C>A
NM_016592.3:c.*219-29C>A NP_057676.1:n.*219-29C>A
NM_080425.2:c.2242-29C>A NP_536350.2:n.2242-29C>A
NM_080425.3:c.2242-29C>A NP_536350.2:n.2242-29C>A
NM_080426.2:c.271-29C>A NP_536351.1:n.271-29C>A
NM_080426.3:c.271-29C>A NP_536351.1:n.271-29C>A
NR_003259.1:c.-4294966893-29C>A
XM_017027812.2:c.2245-29C>A XP_016883301.1:n.2245-29C>A
XM_017027813.2:c.2200-29C>A XP_016883302.1:n.2200-29C>A
XM_017027814.2:c.2197-29C>A XP_016883303.1:n.2197-29C>A
XM_017027815.1:c.172-29C>A XP_016883304.1:n.172-29C>A
XM_017027816.1:c.91-29C>A XP_016883305.1:n.91-29C>A
XM_017027817.1:c.91-29C>A XP_016883306.1:n.91-29C>A
XM_017027818.2:c.91-29C>A XP_016883307.1:n.91-29C>A
XM_017027819.1:c.91-29C>A XP_016883308.1:n.91-29C>A
XM_017027820.1:c.91-29C>A XP_016883309.1:n.91-29C>A
XM_017027821.1:c.*216-29C>A XP_016883310.1:n.*216-29C>A
XM_017027822.1:c.*171-29C>A XP_016883311.1:n.*171-29C>A
XM_024451872.1:c.217-29C>A XP_024307640.1:n.217-29C>A
XM_024451873.1:c.136-29C>A XP_024307641.1:n.136-29C>A
XM_024451874.1:c.136-29C>A XP_024307642.1:n.136-29C>A
XM_024451875.1:c.136-29C>A XP_024307643.1:n.136-29C>A
XR_002958471.1:n.1020-29C>A
NM_000516.6:c.313-29C>A NP_000507.1:n.313-29C>A
NM_001077488.4:c.316-29C>A NP_001070956.1:n.316-29C>A
NM_001077489.4:c.268-29C>A NP_001070957.1:n.268-29C>A
NM_001309840.2:c.136-29C>A NP_001296769.1:n.136-29C>A
NM_001309861.2:c.136-29C>A NP_001296790.1:n.136-29C>A
NM_016592.4:c.*219-29C>A NP_057676.1:n.*219-29C>A
NM_080426.4:c.271-29C>A NP_536351.1:n.271-29C>A
NM_000516.7:c.313-29C>A MANE Select NP_000507.1:n.313-29C>A
NM_001077488.5:c.316-29C>A NP_001070956.1:n.316-29C>A
NM_001077490.3:c.*174-29C>A NP_001070958.1:n.*174-29C>A
NM_016592.5:c.*219-29C>A MANE Plus Clinical NP_057676.1:n.*219-29C>A
NM_080425.4:c.2242-29C>A MANE Plus Clinical NP_536350.2:n.2242-29C>A
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