Canonical Allele Identifier: CA15973957
Gene: GNAS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58894018T>C , CM000682.2:g.58894018T>C GRCh38
NC_000020.10:g.57469073T>C , CM000682.1:g.57469073T>C GRCh37
NC_000020.9:g.56902468T>C NCBI36
NG_016194.1:g.59279T>C
NG_016194.2:g.59279T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2069-1594T>C ENSP00000265621.6:n.2069-1594T>C
ENST00000419558.7:c.*43-1594T>C ENSP00000416234.2:n.*43-1594T>C
ENST00000423897.7:c.2069-1594T>C ENSP00000412356.2:n.2069-1594T>C
ENST00000453292.7:c.781-1594T>C ENSP00000392000.2:n.781-1594T>C
ENST00000462499.6:c.-38-1594T>C ENSP00000499758.2:n.-38-1594T>C
ENST00000464624.7:c.2160-1594T>C ENSP00000499607.2:n.2160-1594T>C
ENST00000464788.6:c.-38-1594T>C ENSP00000499239.2:n.-38-1594T>C
ENST00000467227.6:c.-38-1594T>C ENSP00000499681.2:n.-38-1594T>C
ENST00000467321.6:c.-38-1594T>C ENSP00000499523.2:n.-38-1594T>C
ENST00000468895.6:c.140-1594T>C ENSP00000499551.2:n.140-1594T>C
ENST00000469431.6:c.-38-1594T>C ENSP00000499654.2:n.-38-1594T>C
ENST00000470512.6:c.-38-1594T>C ENSP00000499552.2:n.-38-1594T>C
ENST00000472183.6:c.-38-1594T>C ENSP00000499673.2:n.-38-1594T>C
ENST00000476935.6:c.-38-1594T>C ENSP00000499409.2:n.-38-1594T>C
ENST00000478585.6:c.-38-1594T>C ENSP00000499762.2:n.-38-1594T>C
ENST00000480232.6:c.-38-1594T>C ENSP00000499545.2:n.-38-1594T>C
ENST00000481039.6:c.-38-1594T>C ENSP00000499767.2:n.-38-1594T>C
ENST00000482112.6:c.-38-1594T>C ENSP00000499794.2:n.-38-1594T>C
ENST00000485673.6:c.-38-1594T>C ENSP00000499334.2:n.-38-1594T>C
ENST00000488546.6:c.-38-1594T>C ENSP00000499332.2:n.-38-1594T>C
ENST00000488652.6:c.-38-1594T>C ENSP00000499435.2:n.-38-1594T>C
ENST00000492907.6:c.-38-1594T>C ENSP00000499443.2:n.-38-1594T>C
ENST00000603546.2:c.-39+1512T>C ENSP00000474802.2:n.-39+1512T>C
ENST00000604005.6:c.-38-1594T>C ENSP00000474219.2:n.-38-1594T>C
ENST00000663479.2:c.-38-1594T>C ENSP00000499353.2:n.-38-1594T>C
ENST00000667293.2:c.-38-1594T>C ENSP00000499293.2:n.-38-1594T>C
ENST00000676826.2:c.2069-1594T>C ENSP00000504675.2:n.2069-1594T>C
ENST00000682134.1:n.919T>C
ENST00000682803.1:c.-365-1594T>C ENSP00000507069.1:n.-365-1594T>C
ENST00000682829.1:n.919T>C
ENST00000683015.1:c.910-1594T>C ENSP00000506815.1:n.910-1594T>C
ENST00000684284.1:n.924T>C
ENST00000306090.12:c.44-1594T>C ENSP00000304472.12:n.44-1594T>C
ENST00000338783.7:c.140-1594T>C ENSP00000345971.7:n.140-1594T>C
ENST00000349036.8:c.2069-1594T>C ENSP00000265621.5:n.2069-1594T>C
ENST00000354359.12:c.140-1594T>C ENSP00000346328.7:n.140-1594T>C
ENST00000371085.8:c.140-1594T>C MANE Select ENSP00000360126.3:n.140-1594T>C
ENST00000371100.9:c.2069-1594T>C MANE Plus Clinical ENSP00000360141.3:n.2069-1594T>C
ENST00000419558.6:c.*43-1594T>C ENSP00000416234.2:n.*43-1594T>C
ENST00000423897.6:c.2069-1594T>C ENSP00000412356.2:n.2069-1594T>C
ENST00000453292.6:c.*43-1594T>C ENSP00000392000.2:n.*43-1594T>C
ENST00000461152.6:c.910-1594T>C ENSP00000499274.1:n.910-1594T>C
ENST00000481768.6:c.2227-1594T>C ENSP00000499644.2:n.2227-1594T>C
ENST00000490374.6:n.223-1594T>C
ENST00000657090.1:c.-38-1594T>C ENSP00000499380.1:n.-38-1594T>C
ENST00000663479.1:c.-38-1594T>C ENSP00000499353.1:n.-38-1594T>C
ENST00000667293.1:c.11-1594T>C ENSP00000499293.1:n.11-1594T>C
ENST00000676826.1:c.2069-1594T>C ENSP00000504675.1:n.2069-1594T>C
ENST00000265620.11:c.140-1594T>C ENSP00000265620.7:n.140-1594T>C
ENST00000306090.11:c.93+2199T>C ENSP00000304472.11:n.93+2199T>C
ENST00000313949.11:c.*43-1594T>C ENSP00000323571.7:n.*43-1594T>C
ENST00000338783.6:c.107-1594T>C ENSP00000345971.6:n.107-1594T>C
ENST00000349036.7:c.188-1594T>C ENSP00000265621.4:n.188-1594T>C
ENST00000354359.11:c.140-1594T>C ENSP00000346328.7:n.140-1594T>C
ENST00000371075.7:c.*43-1594T>C MANE Plus Clinical ENSP00000360115.3:n.*43-1594T>C
ENST00000371081.5:c.140-1594T>C ENSP00000360122.1:n.140-1594T>C
ENST00000371085.7:c.140-1594T>C ENSP00000360126.3:n.140-1594T>C
ENST00000371095.7:c.140-1594T>C ENSP00000360136.3:n.140-1594T>C
ENST00000371098.6:c.*43-1594T>C ENSP00000360139.2:n.*43-1594T>C
ENST00000371100.8:c.2069-1594T>C ENSP00000360141.3:n.2069-1594T>C
ENST00000371102.8:c.2069-1594T>C ENSP00000360143.4:n.2069-1594T>C
ENST00000419558.5:c.384-1594T>C
ENST00000423897.5:c.157-1594T>C
ENST00000450130.5:c.228-1594T>C
ENST00000453292.5:c.544-1594T>C ENSP00000392000.1:n.544-1594T>C
ENST00000461152.5:n.148-1594T>C
ENST00000462499.5:n.259-1594T>C
ENST00000464624.6:n.2356-1594T>C
ENST00000464788.5:n.68-1594T>C
ENST00000464960.5:n.407-1594T>C
ENST00000467227.5:n.123-1594T>C
ENST00000467321.5:n.155-1594T>C
ENST00000468895.5:n.51-1594T>C
ENST00000469431.5:n.257-1594T>C
ENST00000470512.5:n.211-1594T>C
ENST00000472183.5:n.392-1594T>C
ENST00000476935.5:n.174-1594T>C
ENST00000477931.5:n.255-1594T>C
ENST00000478585.5:n.195-1594T>C
ENST00000480232.5:n.156-1594T>C
ENST00000480975.5:n.184-1594T>C
ENST00000481039.5:n.57-1594T>C
ENST00000481768.5:n.1324-1594T>C
ENST00000482112.5:n.259-1594T>C
ENST00000484504.5:n.128-1594T>C
ENST00000485673.5:n.427-1594T>C
ENST00000488546.5:n.41-1594T>C
ENST00000488652.5:n.230-1594T>C
ENST00000490374.5:n.255-1594T>C
ENST00000491348.5:n.534-1594T>C
ENST00000492907.5:n.133-1594T>C
ENST00000493744.5:n.233-1594T>C
ENST00000603546.1:c.-39+1512T>C ENSP00000474802.1:n.-39+1512T>C
ENST00000604005.5:c.-38-1594T>C ENSP00000474219.1:n.-38-1594T>C
NM_000516.4:c.140-1594T>C NP_000507.1:n.140-1594T>C
NM_000516.5:c.140-1594T>C NP_000507.1:n.140-1594T>C
NM_001077488.2:c.140-1594T>C NP_001070956.1:n.140-1594T>C
NM_001077488.3:c.140-1594T>C NP_001070956.1:n.140-1594T>C
NM_001077489.2:c.140-1594T>C NP_001070957.1:n.140-1594T>C
NM_001077489.3:c.140-1594T>C NP_001070957.1:n.140-1594T>C
NM_001077490.1:c.*1-1594T>C NP_001070958.1:n.*1-1594T>C
NM_001077490.2:c.*1-1594T>C NP_001070958.1:n.*1-1594T>C
NM_001309840.1:c.-38-1594T>C NP_001296769.1:n.-38-1594T>C
NM_001309842.1:c.140-1594T>C NP_001296771.1:n.140-1594T>C
NM_001309861.1:c.-38-1594T>C NP_001296790.1:n.-38-1594T>C
NM_001309883.1:c.*159-1594T>C NP_001296812.1:n.*159-1594T>C
NM_016592.2:c.*43-1594T>C NP_057676.1:n.*43-1594T>C
NM_016592.3:c.*43-1594T>C NP_057676.1:n.*43-1594T>C
NM_080425.2:c.2069-1594T>C NP_536350.2:n.2069-1594T>C
NM_080425.3:c.2069-1594T>C NP_536350.2:n.2069-1594T>C
NM_080426.2:c.140-1594T>C NP_536351.1:n.140-1594T>C
NM_080426.3:c.140-1594T>C NP_536351.1:n.140-1594T>C
NR_003259.1:c.-4294967066-1594T>C
NR_132272.1:n.47-1594T>C
NR_132273.1:n.407-1594T>C
XM_017027812.2:c.2069-1594T>C XP_016883301.1:n.2069-1594T>C
XM_017027813.2:c.2069-1594T>C XP_016883302.1:n.2069-1594T>C
XM_017027814.2:c.2069-1594T>C XP_016883303.1:n.2069-1594T>C
XM_017027815.1:c.44-1594T>C XP_016883304.1:n.44-1594T>C
XM_017027816.1:c.-165-1594T>C XP_016883305.1:n.-165-1594T>C
XM_017027817.1:c.-38-1594T>C XP_016883306.1:n.-38-1594T>C
XM_017027818.2:c.-38-1594T>C XP_016883307.1:n.-38-1594T>C
XM_017027819.1:c.-38-1594T>C XP_016883308.1:n.-38-1594T>C
XM_017027821.1:c.*43-1594T>C XP_016883310.1:n.*43-1594T>C
XM_017027822.1:c.*43-1594T>C XP_016883311.1:n.*43-1594T>C
XM_024451872.1:c.44-1594T>C XP_024307640.1:n.44-1594T>C
XM_024451873.1:c.-38-1594T>C XP_024307641.1:n.-38-1594T>C
XM_024451874.1:c.-39+1512T>C XP_024307642.1:n.-39+1512T>C
XM_024451875.1:c.-38-1594T>C XP_024307643.1:n.-38-1594T>C
XR_002958471.1:n.765-1594T>C
NM_000516.6:c.140-1594T>C NP_000507.1:n.140-1594T>C
NM_001077488.4:c.140-1594T>C NP_001070956.1:n.140-1594T>C
NM_001077489.4:c.140-1594T>C NP_001070957.1:n.140-1594T>C
NM_001309840.2:c.-38-1594T>C NP_001296769.1:n.-38-1594T>C
NM_001309842.2:c.140-1594T>C NP_001296771.1:n.140-1594T>C
NM_001309861.2:c.-38-1594T>C NP_001296790.1:n.-38-1594T>C
NM_016592.4:c.*43-1594T>C NP_057676.1:n.*43-1594T>C
NM_080426.4:c.140-1594T>C NP_536351.1:n.140-1594T>C
NR_132272.2:n.48-1594T>C
NM_000516.7:c.140-1594T>C MANE Select NP_000507.1:n.140-1594T>C
NM_001077488.5:c.140-1594T>C NP_001070956.1:n.140-1594T>C
NM_001077490.3:c.*1-1594T>C NP_001070958.1:n.*1-1594T>C
NM_016592.5:c.*43-1594T>C MANE Plus Clinical NP_057676.1:n.*43-1594T>C
NM_080425.4:c.2069-1594T>C MANE Plus Clinical NP_536350.2:n.2069-1594T>C
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