Canonical Allele Identifier: CA409452688

Gene: GNAS

Linked Data

• gnomAD v4: 20-58909765-A-G
• MyVariant Identifiers: chr20:g.57484820A>G (hg19) ; chr20:g.58909765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909765A>G , CM000682.2:g.58909765A>G	GRCh38
NC_000020.10:g.57484820A>G , CM000682.1:g.57484820A>G	GRCh37
NC_000020.9:g.56918215A>G	NCBI36
NG_016194.1:g.75026A>G
NG_016194.2:g.75026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2684A>G	ENSP00000265621.6:p.Gln895Arg
ENST00000419558.7:c.*658A>G	ENSP00000416234.2:n.*658A>G
ENST00000453292.7:c.1399A>G	ENSP00000392000.2:n.1399A>G
ENST00000462499.6:c.581A>G	ENSP00000499758.2:p.Gln194Arg
ENST00000464624.7:c.*642A>G	ENSP00000499607.2:n.*642A>G
ENST00000464788.6:c.623A>G	ENSP00000499239.2:p.Gln208Arg
ENST00000467227.6:c.581A>G	ENSP00000499681.2:p.Gln194Arg
ENST00000467321.6:c.623A>G	ENSP00000499523.2:p.Gln208Arg
ENST00000468895.6:c.800A>G	ENSP00000499551.2:p.Gln267Arg
ENST00000469431.6:c.623A>G	ENSP00000499654.2:p.Gln208Arg
ENST00000470512.6:c.626A>G	ENSP00000499552.2:p.Gln209Arg
ENST00000472183.6:c.623A>G	ENSP00000499673.2:p.Gln208Arg
ENST00000475610.2:n.1306A>G
ENST00000476935.6:c.578A>G	ENSP00000499409.2:p.Gln193Arg
ENST00000478585.6:c.581A>G	ENSP00000499762.2:p.Gln194Arg
ENST00000480232.6:c.626A>G	ENSP00000499545.2:p.Gln209Arg
ENST00000481039.6:c.581A>G	ENSP00000499767.2:p.Gln194Arg
ENST00000482112.6:c.578A>G	ENSP00000499794.2:p.Gln193Arg
ENST00000485673.6:c.581A>G	ENSP00000499334.2:p.Gln194Arg
ENST00000488546.6:c.581A>G	ENSP00000499332.2:p.Gln194Arg
ENST00000488652.6:c.623A>G	ENSP00000499435.2:p.Gln208Arg
ENST00000492907.6:c.581A>G	ENSP00000499443.2:p.Gln194Arg
ENST00000603546.2:c.623A>G	ENSP00000474802.2:p.Gln208Arg
ENST00000604005.6:c.623A>G	ENSP00000474219.2:p.Gln208Arg
ENST00000663479.2:c.626A>G	ENSP00000499353.2:p.Gln209Arg
ENST00000667293.2:c.623A>G	ENSP00000499293.2:p.Gln208Arg
ENST00000676826.2:c.2732A>G	ENSP00000504675.2:p.Gln911Arg
ENST00000682092.1:n.5084A>G
ENST00000682134.1:n.2726A>G
ENST00000682411.1:n.2895A>G
ENST00000682590.1:n.4987A>G
ENST00000682680.1:n.5001A>G
ENST00000682803.1:c.473A>G	ENSP00000507069.1:p.Gln158Arg
ENST00000682829.1:n.3128A>G
ENST00000682917.1:n.1328A>G
ENST00000682986.1:n.5217A>G
ENST00000683015.1:c.1570A>G	ENSP00000506815.1:n.1570A>G
ENST00000683632.1:n.5330A>G
ENST00000683932.1:n.6576A>G
ENST00000684284.1:n.3178A>G
ENST00000684466.1:n.1439A>G
ENST00000684644.1:n.5120A>G
ENST00000684761.1:n.1293A>G
ENST00000306090.12:c.704A>G	ENSP00000304472.12:p.Gln235Arg
ENST00000354359.12:c.803A>G	ENSP00000346328.7:p.Gln268Arg
ENST00000371085.8:c.800A>G MANE Select	ENSP00000360126.3:p.Gln267Arg
ENST00000371100.9:c.2729A>G MANE Plus Clinical	ENSP00000360141.3:p.Gln910Arg
ENST00000656419.1:c.329A>G	ENSP00000499614.1:p.Gln110Arg
ENST00000657090.1:c.623A>G	ENSP00000499380.1:p.Gln208Arg
ENST00000667293.1:c.671A>G	ENSP00000499293.1:p.Gln224Arg
ENST00000265620.11:c.755A>G	ENSP00000265620.7:p.Gln252Arg
ENST00000306090.11:c.94-2A>G	ENSP00000304472.11:n.94-2A>G
ENST00000313949.11:c.*703A>G	ENSP00000323571.7:n.*703A>G
ENST00000354359.11:c.803A>G	ENSP00000346328.7:p.Gln268Arg
ENST00000371075.7:c.*706A>G MANE Plus Clinical	ENSP00000360115.3:n.*706A>G
ENST00000371085.7:c.800A>G	ENSP00000360126.3:p.Gln267Arg
ENST00000371095.7:c.758A>G	ENSP00000360136.3:p.Gln253Arg
ENST00000371100.8:c.2729A>G	ENSP00000360141.3:p.Gln910Arg
ENST00000371102.8:c.2687A>G	ENSP00000360143.4:p.Gln896Arg
ENST00000464624.6:n.3016A>G
ENST00000470512.5:n.874A>G
ENST00000476196.5:n.1093A>G
ENST00000476935.5:n.789A>G
ENST00000477931.5:n.915A>G
ENST00000480232.5:n.819A>G
ENST00000480975.5:n.799A>G
ENST00000481039.5:n.717A>G
ENST00000487862.5:n.1034A>G
ENST00000488546.5:n.659A>G
ENST00000488652.5:n.890A>G
ENST00000492907.5:n.751A>G
ENST00000493958.5:n.523A>G
ENST00000494081.5:n.355A>G
ENST00000496934.5:n.2089A>G
NM_000516.4:c.800A>G	NP_000507.1:p.Gln267Arg
NM_000516.5:c.800A>G	NP_000507.1:p.Gln267Arg
NM_001077488.2:c.803A>G	NP_001070956.1:p.Gln268Arg
NM_001077488.3:c.803A>G	NP_001070956.1:p.Gln268Arg
NM_001077489.2:c.755A>G	NP_001070957.1:p.Gln252Arg
NM_001077489.3:c.755A>G	NP_001070957.1:p.Gln252Arg
NM_001077490.1:c.*661A>G	NP_001070958.1:n.*661A>G
NM_001077490.2:c.*661A>G	NP_001070958.1:n.*661A>G
NM_001309840.1:c.623A>G	NP_001296769.1:p.Gln208Arg
NM_001309861.1:c.623A>G	NP_001296790.1:p.Gln208Arg
NM_016592.2:c.*706A>G	NP_057676.1:n.*706A>G
NM_016592.3:c.*706A>G	NP_057676.1:n.*706A>G
NM_080425.2:c.2729A>G	NP_536350.2:p.Gln910Arg
NM_080425.3:c.2729A>G	NP_536350.2:p.Gln910Arg
NM_080426.2:c.758A>G	NP_536351.1:p.Gln253Arg
NM_080426.3:c.758A>G	NP_536351.1:p.Gln253Arg
NR_003259.1:c.-4294966406A>G
XM_017027812.2:c.2732A>G	XP_016883301.1:p.Gln911Arg
XM_017027813.2:c.2687A>G	XP_016883302.1:p.Gln896Arg
XM_017027814.2:c.2684A>G	XP_016883303.1:p.Gln895Arg
XM_017027815.1:c.659A>G	XP_016883304.1:p.Gln220Arg
XM_017027816.1:c.578A>G	XP_016883305.1:p.Gln193Arg
XM_017027817.1:c.578A>G	XP_016883306.1:p.Gln193Arg
XM_017027818.2:c.578A>G	XP_016883307.1:p.Gln193Arg
XM_017027819.1:c.578A>G	XP_016883308.1:p.Gln193Arg
XM_017027820.1:c.578A>G	XP_016883309.1:p.Gln193Arg
XM_024451872.1:c.704A>G	XP_024307640.1:p.Gln235Arg
XM_024451873.1:c.623A>G	XP_024307641.1:p.Gln208Arg
XM_024451874.1:c.623A>G	XP_024307642.1:p.Gln208Arg
XM_024451875.1:c.623A>G	XP_024307643.1:p.Gln208Arg
XR_002958471.1:n.1507A>G
NM_000516.6:c.800A>G	NP_000507.1:p.Gln267Arg
NM_001077488.4:c.803A>G	NP_001070956.1:p.Gln268Arg
NM_001077489.4:c.755A>G	NP_001070957.1:p.Gln252Arg
NM_001309840.2:c.623A>G	NP_001296769.1:p.Gln208Arg
NM_001309861.2:c.623A>G	NP_001296790.1:p.Gln208Arg
NM_016592.4:c.*706A>G	NP_057676.1:n.*706A>G
NM_080426.4:c.758A>G	NP_536351.1:p.Gln253Arg
NM_000516.7:c.800A>G MANE Select	NP_000507.1:p.Gln267Arg
NM_001077488.5:c.803A>G	NP_001070956.1:p.Gln268Arg
NM_001077490.3:c.*661A>G	NP_001070958.1:n.*661A>G
NM_016592.5:c.*706A>G MANE Plus Clinical	NP_057676.1:n.*706A>G
NM_080425.4:c.2729A>G MANE Plus Clinical	NP_536350.2:p.Gln910Arg