Canonical Allele Identifier: CA409450317

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57478630A>T (hg19) ; chr20:g.58903575A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903575A>T , CM000682.2:g.58903575A>T	GRCh38
NC_000020.10:g.57478630A>T , CM000682.1:g.57478630A>T	GRCh37
NC_000020.9:g.56912025A>T	NCBI36
NG_016194.1:g.68836A>T
NG_016194.2:g.68836A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2186A>T	ENSP00000265621.6:p.Glu729Val
ENST00000419558.7:c.*160A>T	ENSP00000416234.2:n.*160A>T
ENST00000453292.7:c.901A>T	ENSP00000392000.2:n.901A>T
ENST00000462499.6:c.83A>T	ENSP00000499758.2:p.Glu28Val
ENST00000464624.7:c.*144A>T	ENSP00000499607.2:n.*144A>T
ENST00000464788.6:c.125A>T	ENSP00000499239.2:p.Glu42Val
ENST00000467227.6:c.83A>T	ENSP00000499681.2:p.Glu28Val
ENST00000467321.6:c.125A>T	ENSP00000499523.2:p.Glu42Val
ENST00000468895.6:c.302A>T	ENSP00000499551.2:p.Glu101Val
ENST00000469431.6:c.125A>T	ENSP00000499654.2:p.Glu42Val
ENST00000470512.6:c.128A>T	ENSP00000499552.2:p.Glu43Val
ENST00000472183.6:c.125A>T	ENSP00000499673.2:p.Glu42Val
ENST00000475610.2:n.808A>T
ENST00000476935.6:c.80A>T	ENSP00000499409.2:p.Glu27Val
ENST00000478585.6:c.83A>T	ENSP00000499762.2:p.Glu28Val
ENST00000480232.6:c.128A>T	ENSP00000499545.2:p.Glu43Val
ENST00000481039.6:c.83A>T	ENSP00000499767.2:p.Glu28Val
ENST00000482112.6:c.80A>T	ENSP00000499794.2:p.Glu27Val
ENST00000485673.6:c.83A>T	ENSP00000499334.2:p.Glu28Val
ENST00000488546.6:c.83A>T	ENSP00000499332.2:p.Glu28Val
ENST00000488652.6:c.125A>T	ENSP00000499435.2:p.Glu42Val
ENST00000492907.6:c.83A>T	ENSP00000499443.2:p.Glu28Val
ENST00000603546.2:c.125A>T	ENSP00000474802.2:p.Glu42Val
ENST00000604005.6:c.125A>T	ENSP00000474219.2:p.Glu42Val
ENST00000663479.2:c.128A>T	ENSP00000499353.2:p.Glu43Val
ENST00000667293.2:c.125A>T	ENSP00000499293.2:p.Glu42Val
ENST00000676826.2:c.2234A>T	ENSP00000504675.2:p.Glu745Val
ENST00000682092.1:n.808A>T
ENST00000682134.1:n.2228A>T
ENST00000682411.1:n.806A>T
ENST00000682590.1:n.808A>T
ENST00000682680.1:n.736A>T
ENST00000682803.1:c.-26A>T	ENSP00000507069.1:n.-26A>T
ENST00000682829.1:n.2630A>T
ENST00000682917.1:n.744A>T
ENST00000682986.1:n.808A>T
ENST00000683015.1:c.1072A>T	ENSP00000506815.1:n.1072A>T
ENST00000683632.1:n.817A>T
ENST00000683932.1:n.806A>T
ENST00000684284.1:n.2680A>T
ENST00000684466.1:n.808A>T
ENST00000684644.1:n.808A>T
ENST00000684761.1:n.808A>T
ENST00000306090.12:c.206A>T	ENSP00000304472.12:p.Glu69Val
ENST00000349036.8:c.2186A>T	ENSP00000265621.5:p.Glu729Val
ENST00000354359.12:c.305A>T	ENSP00000346328.7:p.Glu102Val
ENST00000371085.8:c.302A>T MANE Select	ENSP00000360126.3:p.Glu101Val
ENST00000371100.9:c.2231A>T MANE Plus Clinical	ENSP00000360141.3:p.Glu744Val
ENST00000419558.6:c.*160A>T	ENSP00000416234.2:n.*160A>T
ENST00000461152.6:c.1030A>T	ENSP00000499274.1:n.1030A>T
ENST00000490374.6:n.467A>T
ENST00000657090.1:c.125A>T	ENSP00000499380.1:p.Glu42Val
ENST00000663479.1:c.128A>T	ENSP00000499353.1:p.Glu43Val
ENST00000667293.1:c.173A>T	ENSP00000499293.1:p.Glu58Val
ENST00000676826.1:c.2234A>T	ENSP00000504675.1:p.Glu745Val
ENST00000265620.11:c.257A>T	ENSP00000265620.7:p.Glu86Val
ENST00000306090.11:c.94-6192A>T	ENSP00000304472.11:n.94-6192A>T
ENST00000313949.11:c.*205A>T	ENSP00000323571.7:n.*205A>T
ENST00000349036.7:c.353A>T	ENSP00000265621.4:p.Glu118Val
ENST00000354359.11:c.305A>T	ENSP00000346328.7:p.Glu102Val
ENST00000371075.7:c.*208A>T MANE Plus Clinical	ENSP00000360115.3:n.*208A>T
ENST00000371085.7:c.302A>T	ENSP00000360126.3:p.Glu101Val
ENST00000371095.7:c.260A>T	ENSP00000360136.3:p.Glu87Val
ENST00000371100.8:c.2231A>T	ENSP00000360141.3:p.Glu744Val
ENST00000371102.8:c.2189A>T	ENSP00000360143.4:p.Glu730Val
ENST00000419558.5:c.501A>T
ENST00000450130.5:c.345A>T
ENST00000461152.5:n.268A>T
ENST00000462499.5:n.379A>T
ENST00000464624.6:n.2518A>T
ENST00000464788.5:n.230A>T
ENST00000467227.5:n.243A>T
ENST00000467321.5:n.317A>T
ENST00000468895.5:n.171A>T
ENST00000469431.5:n.419A>T
ENST00000470512.5:n.376A>T
ENST00000472183.5:n.554A>T
ENST00000476196.5:n.595A>T
ENST00000476935.5:n.291A>T
ENST00000477931.5:n.417A>T
ENST00000478585.5:n.315A>T
ENST00000480232.5:n.321A>T
ENST00000480975.5:n.301A>T
ENST00000481039.5:n.219A>T
ENST00000482112.5:n.376A>T
ENST00000485673.5:n.547A>T
ENST00000487862.5:n.536A>T
ENST00000487981.5:n.39A>T
ENST00000488546.5:n.161A>T
ENST00000488652.5:n.392A>T
ENST00000490374.5:n.420A>T
ENST00000492907.5:n.253A>T
ENST00000494081.5:n.45A>T
ENST00000496934.5:n.1591A>T
ENST00000603546.1:c.125A>T	ENSP00000474802.1:p.Glu42Val
ENST00000604005.5:c.125A>T	ENSP00000474219.1:p.Glu42Val
NM_000516.4:c.302A>T	NP_000507.1:p.Glu101Val
NM_000516.5:c.302A>T	NP_000507.1:p.Glu101Val
NM_001077488.2:c.305A>T	NP_001070956.1:p.Glu102Val
NM_001077488.3:c.305A>T	NP_001070956.1:p.Glu102Val
NM_001077489.2:c.257A>T	NP_001070957.1:p.Glu86Val
NM_001077489.3:c.257A>T	NP_001070957.1:p.Glu86Val
NM_001077490.1:c.*163A>T	NP_001070958.1:n.*163A>T
NM_001077490.2:c.*163A>T	NP_001070958.1:n.*163A>T
NM_001309840.1:c.125A>T	NP_001296769.1:p.Glu42Val
NM_001309861.1:c.125A>T	NP_001296790.1:p.Glu42Val
NM_016592.2:c.*208A>T	NP_057676.1:n.*208A>T
NM_016592.3:c.*208A>T	NP_057676.1:n.*208A>T
NM_080425.2:c.2231A>T	NP_536350.2:p.Glu744Val
NM_080425.3:c.2231A>T	NP_536350.2:p.Glu744Val
NM_080426.2:c.260A>T	NP_536351.1:p.Glu87Val
NM_080426.3:c.260A>T	NP_536351.1:p.Glu87Val
NR_003259.1:c.-4294966904A>T
XM_017027812.2:c.2234A>T	XP_016883301.1:p.Glu745Val
XM_017027813.2:c.2189A>T	XP_016883302.1:p.Glu730Val
XM_017027814.2:c.2186A>T	XP_016883303.1:p.Glu729Val
XM_017027815.1:c.161A>T	XP_016883304.1:p.Glu54Val
XM_017027816.1:c.80A>T	XP_016883305.1:p.Glu27Val
XM_017027817.1:c.80A>T	XP_016883306.1:p.Glu27Val
XM_017027818.2:c.80A>T	XP_016883307.1:p.Glu27Val
XM_017027819.1:c.80A>T	XP_016883308.1:p.Glu27Val
XM_017027820.1:c.80A>T	XP_016883309.1:p.Glu27Val
XM_017027821.1:c.*205A>T	XP_016883310.1:n.*205A>T
XM_017027822.1:c.*160A>T	XP_016883311.1:n.*160A>T
XM_024451872.1:c.206A>T	XP_024307640.1:p.Glu69Val
XM_024451873.1:c.125A>T	XP_024307641.1:p.Glu42Val
XM_024451874.1:c.125A>T	XP_024307642.1:p.Glu42Val
XM_024451875.1:c.125A>T	XP_024307643.1:p.Glu42Val
XR_002958471.1:n.1009A>T
NM_000516.6:c.302A>T	NP_000507.1:p.Glu101Val
NM_001077488.4:c.305A>T	NP_001070956.1:p.Glu102Val
NM_001077489.4:c.257A>T	NP_001070957.1:p.Glu86Val
NM_001309840.2:c.125A>T	NP_001296769.1:p.Glu42Val
NM_001309861.2:c.125A>T	NP_001296790.1:p.Glu42Val
NM_016592.4:c.*208A>T	NP_057676.1:n.*208A>T
NM_080426.4:c.260A>T	NP_536351.1:p.Glu87Val
NM_000516.7:c.302A>T MANE Select	NP_000507.1:p.Glu101Val
NM_001077488.5:c.305A>T	NP_001070956.1:p.Glu102Val
NM_001077490.3:c.*163A>T	NP_001070958.1:n.*163A>T
NM_016592.5:c.*208A>T MANE Plus Clinical	NP_057676.1:n.*208A>T
NM_080425.4:c.2231A>T MANE Plus Clinical	NP_536350.2:p.Glu744Val