Canonical Allele Identifier: CA9927045
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs200066108
ExAC: 20:57478676 C / A
gnomAD v2: 20-57478676-C-A
gnomAD v4: 20-58903621-C-A
MyVariant Identifiers: chr20:g.57478676C>A (hg19) chr20:g.58903621C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903621C>A , CM000682.2:g.58903621C>A GRCh38
NC_000020.10:g.57478676C>A , CM000682.1:g.57478676C>A GRCh37
NC_000020.9:g.56912071C>A NCBI36
NG_016194.1:g.68882C>A
NG_016194.2:g.68882C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.2196+36C>A ENSP00000265621.6:n.2196+36C>A
ENST00000419558.7:c.*170+36C>A ENSP00000416234.2:n.*170+36C>A
ENST00000453292.7:c.911+36C>A ENSP00000392000.2:n.911+36C>A
ENST00000462499.6:c.93+36C>A ENSP00000499758.2:n.93+36C>A
ENST00000464624.7:c.*154+36C>A ENSP00000499607.2:n.*154+36C>A
ENST00000464788.6:c.135+36C>A ENSP00000499239.2:n.135+36C>A
ENST00000467227.6:c.93+36C>A ENSP00000499681.2:n.93+36C>A
ENST00000467321.6:c.135+36C>A ENSP00000499523.2:n.135+36C>A
ENST00000468895.6:c.312+36C>A ENSP00000499551.2:n.312+36C>A
ENST00000469431.6:c.135+36C>A ENSP00000499654.2:n.135+36C>A
ENST00000470512.6:c.138+36C>A ENSP00000499552.2:n.138+36C>A
ENST00000472183.6:c.135+36C>A ENSP00000499673.2:n.135+36C>A
ENST00000475610.2:n.818+36C>A
ENST00000476935.6:c.90+36C>A ENSP00000499409.2:n.90+36C>A
ENST00000478585.6:c.93+36C>A ENSP00000499762.2:n.93+36C>A
ENST00000480232.6:c.138+36C>A ENSP00000499545.2:n.138+36C>A
ENST00000481039.6:c.93+36C>A ENSP00000499767.2:n.93+36C>A
ENST00000482112.6:c.90+36C>A ENSP00000499794.2:n.90+36C>A
ENST00000485673.6:c.93+36C>A ENSP00000499334.2:n.93+36C>A
ENST00000488546.6:c.93+36C>A ENSP00000499332.2:n.93+36C>A
ENST00000488652.6:c.135+36C>A ENSP00000499435.2:n.135+36C>A
ENST00000492907.6:c.93+36C>A ENSP00000499443.2:n.93+36C>A
ENST00000603546.2:c.135+36C>A ENSP00000474802.2:n.135+36C>A
ENST00000604005.6:c.135+36C>A ENSP00000474219.2:n.135+36C>A
ENST00000663479.2:c.138+36C>A ENSP00000499353.2:n.138+36C>A
ENST00000667293.2:c.135+36C>A ENSP00000499293.2:n.135+36C>A
ENST00000676826.2:c.2244+36C>A ENSP00000504675.2:n.2244+36C>A
ENST00000682092.1:n.818+36C>A
ENST00000682134.1:n.2238+36C>A
ENST00000682411.1:n.816+36C>A
ENST00000682590.1:n.818+36C>A
ENST00000682680.1:n.782C>A
ENST00000682803.1:c.-16+36C>A ENSP00000507069.1:n.-16+36C>A
ENST00000682829.1:n.2640+36C>A
ENST00000682917.1:n.790C>A
ENST00000682986.1:n.818+36C>A
ENST00000683015.1:c.1082+36C>A ENSP00000506815.1:n.1082+36C>A
ENST00000683632.1:n.827+36C>A
ENST00000683932.1:n.816+36C>A
ENST00000684284.1:n.2690+36C>A
ENST00000684466.1:n.818+36C>A
ENST00000684644.1:n.818+36C>A
ENST00000684761.1:n.818+36C>A
ENST00000306090.12:c.216+36C>A ENSP00000304472.12:n.216+36C>A
ENST00000349036.8:c.2196+36C>A ENSP00000265621.5:n.2196+36C>A
ENST00000354359.12:c.315+36C>A ENSP00000346328.7:n.315+36C>A
ENST00000371085.8:c.312+36C>A MANE Select ENSP00000360126.3:n.312+36C>A
ENST00000371100.9:c.2241+36C>A MANE Plus Clinical ENSP00000360141.3:n.2241+36C>A
ENST00000419558.6:c.*170+36C>A ENSP00000416234.2:n.*170+36C>A
ENST00000490374.6:n.477+36C>A
ENST00000657090.1:c.135+36C>A ENSP00000499380.1:n.135+36C>A
ENST00000663479.1:c.138+36C>A ENSP00000499353.1:n.138+36C>A
ENST00000667293.1:c.183+36C>A ENSP00000499293.1:n.183+36C>A
ENST00000676826.1:c.2244+36C>A ENSP00000504675.1:n.2244+36C>A
ENST00000265620.11:c.267+36C>A ENSP00000265620.7:n.267+36C>A
ENST00000306090.11:c.94-6146C>A ENSP00000304472.11:n.94-6146C>A
ENST00000313949.11:c.*215+36C>A ENSP00000323571.7:n.*215+36C>A
ENST00000349036.7:c.363+36C>A ENSP00000265621.4:n.363+36C>A
ENST00000354359.11:c.315+36C>A ENSP00000346328.7:n.315+36C>A
ENST00000371075.7:c.*218+36C>A MANE Plus Clinical ENSP00000360115.3:n.*218+36C>A
ENST00000371085.7:c.312+36C>A ENSP00000360126.3:n.312+36C>A
ENST00000371095.7:c.270+36C>A ENSP00000360136.3:n.270+36C>A
ENST00000371100.8:c.2241+36C>A ENSP00000360141.3:n.2241+36C>A
ENST00000371102.8:c.2199+36C>A ENSP00000360143.4:n.2199+36C>A
ENST00000419558.5:c.511+36C>A
ENST00000450130.5:c.355+36C>A
ENST00000462499.5:n.389+36C>A
ENST00000464624.6:n.2528+36C>A
ENST00000464788.5:n.240+36C>A
ENST00000467227.5:n.253+36C>A
ENST00000467321.5:n.327+36C>A
ENST00000468895.5:n.181+36C>A
ENST00000469431.5:n.429+36C>A
ENST00000470512.5:n.386+36C>A
ENST00000472183.5:n.564+36C>A
ENST00000476196.5:n.605+36C>A
ENST00000476935.5:n.301+36C>A
ENST00000477931.5:n.427+36C>A
ENST00000478585.5:n.325+36C>A
ENST00000480232.5:n.331+36C>A
ENST00000480975.5:n.311+36C>A
ENST00000481039.5:n.229+36C>A
ENST00000482112.5:n.386+36C>A
ENST00000485673.5:n.557+36C>A
ENST00000487862.5:n.546+36C>A
ENST00000487981.5:n.49+36C>A
ENST00000488546.5:n.171+36C>A
ENST00000488652.5:n.402+36C>A
ENST00000490374.5:n.430+36C>A
ENST00000492907.5:n.263+36C>A
ENST00000494081.5:n.55+36C>A
ENST00000496934.5:n.1601+36C>A
ENST00000603546.1:c.135+36C>A ENSP00000474802.1:n.135+36C>A
ENST00000604005.5:c.135+36C>A ENSP00000474219.1:n.135+36C>A
NM_000516.4:c.312+36C>A NP_000507.1:n.312+36C>A
NM_000516.5:c.312+36C>A NP_000507.1:n.312+36C>A
NM_001077488.2:c.315+36C>A NP_001070956.1:n.315+36C>A
NM_001077488.3:c.315+36C>A NP_001070956.1:n.315+36C>A
NM_001077489.2:c.267+36C>A NP_001070957.1:n.267+36C>A
NM_001077489.3:c.267+36C>A NP_001070957.1:n.267+36C>A
NM_001077490.1:c.*173+36C>A NP_001070958.1:n.*173+36C>A
NM_001077490.2:c.*173+36C>A NP_001070958.1:n.*173+36C>A
NM_001309840.1:c.135+36C>A NP_001296769.1:n.135+36C>A
NM_001309861.1:c.135+36C>A NP_001296790.1:n.135+36C>A
NM_016592.2:c.*218+36C>A NP_057676.1:n.*218+36C>A
NM_016592.3:c.*218+36C>A NP_057676.1:n.*218+36C>A
NM_080425.2:c.2241+36C>A NP_536350.2:n.2241+36C>A
NM_080425.3:c.2241+36C>A NP_536350.2:n.2241+36C>A
NM_080426.2:c.270+36C>A NP_536351.1:n.270+36C>A
NM_080426.3:c.270+36C>A NP_536351.1:n.270+36C>A
NR_003259.1:c.-4294966894+36C>A
XM_017027812.2:c.2244+36C>A XP_016883301.1:n.2244+36C>A
XM_017027813.2:c.2199+36C>A XP_016883302.1:n.2199+36C>A
XM_017027814.2:c.2196+36C>A XP_016883303.1:n.2196+36C>A
XM_017027815.1:c.171+36C>A XP_016883304.1:n.171+36C>A
XM_017027816.1:c.90+36C>A XP_016883305.1:n.90+36C>A
XM_017027817.1:c.90+36C>A XP_016883306.1:n.90+36C>A
XM_017027818.2:c.90+36C>A XP_016883307.1:n.90+36C>A
XM_017027819.1:c.90+36C>A XP_016883308.1:n.90+36C>A
XM_017027820.1:c.90+36C>A XP_016883309.1:n.90+36C>A
XM_017027821.1:c.*215+36C>A XP_016883310.1:n.*215+36C>A
XM_017027822.1:c.*170+36C>A XP_016883311.1:n.*170+36C>A
XM_024451872.1:c.216+36C>A XP_024307640.1:n.216+36C>A
XM_024451873.1:c.135+36C>A XP_024307641.1:n.135+36C>A
XM_024451874.1:c.135+36C>A XP_024307642.1:n.135+36C>A
XM_024451875.1:c.135+36C>A XP_024307643.1:n.135+36C>A
XR_002958471.1:n.1019+36C>A
NM_000516.6:c.312+36C>A NP_000507.1:n.312+36C>A
NM_001077488.4:c.315+36C>A NP_001070956.1:n.315+36C>A
NM_001077489.4:c.267+36C>A NP_001070957.1:n.267+36C>A
NM_001309840.2:c.135+36C>A NP_001296769.1:n.135+36C>A
NM_001309861.2:c.135+36C>A NP_001296790.1:n.135+36C>A
NM_016592.4:c.*218+36C>A NP_057676.1:n.*218+36C>A
NM_080426.4:c.270+36C>A NP_536351.1:n.270+36C>A
NM_000516.7:c.312+36C>A MANE Select NP_000507.1:n.312+36C>A
NM_001077488.5:c.315+36C>A NP_001070956.1:n.315+36C>A
NM_001077490.3:c.*173+36C>A NP_001070958.1:n.*173+36C>A
NM_016592.5:c.*218+36C>A MANE Plus Clinical NP_057676.1:n.*218+36C>A
NM_080425.4:c.2241+36C>A MANE Plus Clinical NP_536350.2:n.2241+36C>A
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