Canonical Allele Identifier: CA409451366

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58905479T>A , CM000682.2:g.58905479T>A	GRCh38
NC_000020.10:g.57480534T>A , CM000682.1:g.57480534T>A	GRCh37
NC_000020.9:g.56913929T>A	NCBI36
NG_016194.1:g.70740T>A
NG_016194.2:g.70740T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.529T>A MANE Select	NP_000507.1:p.Tyr177Asn
ENST00000371085.8:c.529T>A MANE Select	ENSP00000360126.3:p.Tyr177Asn
NM_016592.5:c.*435T>A MANE Plus Clinical	NP_057676.1:n.*435T>A
NM_080425.4:c.2458T>A MANE Plus Clinical	NP_536350.2:p.Tyr820Asn
ENST00000371075.7:c.*435T>A MANE Plus Clinical	ENSP00000360115.3:n.*435T>A
ENST00000371100.9:c.2458T>A MANE Plus Clinical	ENSP00000360141.3:p.Tyr820Asn
NM_000516.4:c.529T>A	NP_000507.1:p.Tyr177Asn
NM_000516.5:c.529T>A	NP_000507.1:p.Tyr177Asn
NM_000516.6:c.529T>A	NP_000507.1:p.Tyr177Asn
NM_001077488.2:c.532T>A	NP_001070956.1:p.Tyr178Asn
NM_001077488.3:c.532T>A	NP_001070956.1:p.Tyr178Asn
NM_001077488.4:c.532T>A	NP_001070956.1:p.Tyr178Asn
NM_001077488.5:c.532T>A	NP_001070956.1:p.Tyr178Asn
NM_001077489.2:c.484T>A	NP_001070957.1:p.Tyr162Asn
NM_001077489.3:c.484T>A	NP_001070957.1:p.Tyr162Asn
NM_001077489.4:c.484T>A	NP_001070957.1:p.Tyr162Asn
NM_001077490.1:c.*390T>A	NP_001070958.1:n.*390T>A
NM_001077490.2:c.*390T>A	NP_001070958.1:n.*390T>A
NM_001077490.3:c.*390T>A	NP_001070958.1:n.*390T>A
NM_001309840.1:c.352T>A	NP_001296769.1:p.Tyr118Asn
NM_001309840.2:c.352T>A	NP_001296769.1:p.Tyr118Asn
NM_001309861.1:c.352T>A	NP_001296790.1:p.Tyr118Asn
NM_001309861.2:c.352T>A	NP_001296790.1:p.Tyr118Asn
NM_016592.2:c.*435T>A	NP_057676.1:n.*435T>A
NM_016592.3:c.*435T>A	NP_057676.1:n.*435T>A
NM_016592.4:c.*435T>A	NP_057676.1:n.*435T>A
NM_080425.2:c.2458T>A	NP_536350.2:p.Tyr820Asn
NM_080425.3:c.2458T>A	NP_536350.2:p.Tyr820Asn
NM_080426.2:c.487T>A	NP_536351.1:p.Tyr163Asn
NM_080426.3:c.487T>A	NP_536351.1:p.Tyr163Asn
NM_080426.4:c.487T>A	NP_536351.1:p.Tyr163Asn
NR_003259.1:c.-4294966677T>A
ENST00000265620.11:c.484T>A	ENSP00000265620.7:p.Tyr162Asn
ENST00000306090.11:c.94-4288T>A	ENSP00000304472.11:n.94-4288T>A
ENST00000306090.12:c.433T>A	ENSP00000304472.12:p.Tyr145Asn
ENST00000313949.11:c.*432T>A	ENSP00000323571.7:n.*432T>A
ENST00000349036.7:c.580T>A
ENST00000349036.8:c.2413T>A	ENSP00000265621.5:p.Tyr805Asn
ENST00000349036.9:c.2413T>A	ENSP00000265621.6:p.Tyr805Asn
ENST00000354359.11:c.532T>A	ENSP00000346328.7:p.Tyr178Asn
ENST00000354359.12:c.532T>A	ENSP00000346328.7:p.Tyr178Asn
ENST00000371085.7:c.529T>A	ENSP00000360126.3:p.Tyr177Asn
ENST00000371095.7:c.487T>A	ENSP00000360136.3:p.Tyr163Asn
ENST00000371100.8:c.2458T>A	ENSP00000360141.3:p.Tyr820Asn
ENST00000371102.8:c.2416T>A	ENSP00000360143.4:p.Tyr806Asn
ENST00000419558.5:c.728T>A
ENST00000419558.6:c.*387T>A	ENSP00000416234.2:n.*387T>A
ENST00000419558.7:c.*387T>A	ENSP00000416234.2:n.*387T>A
ENST00000450130.5:c.572T>A
ENST00000453292.7:c.1128T>A	ENSP00000392000.2:n.1128T>A
ENST00000462499.6:c.310T>A	ENSP00000499758.2:p.Tyr104Asn
ENST00000464624.6:n.2745T>A
ENST00000464624.7:c.*371T>A	ENSP00000499607.2:n.*371T>A
ENST00000464788.5:n.457T>A
ENST00000464788.6:c.352T>A	ENSP00000499239.2:p.Tyr118Asn
ENST00000467227.5:n.470T>A
ENST00000467227.6:c.310T>A	ENSP00000499681.2:p.Tyr104Asn
ENST00000467321.5:n.544T>A
ENST00000467321.6:c.352T>A	ENSP00000499523.2:p.Tyr118Asn
ENST00000468895.5:n.398T>A
ENST00000468895.6:c.529T>A	ENSP00000499551.2:p.Tyr177Asn
ENST00000469431.5:n.646T>A
ENST00000469431.6:c.352T>A	ENSP00000499654.2:p.Tyr118Asn
ENST00000470512.5:n.603T>A
ENST00000470512.6:c.355T>A	ENSP00000499552.2:p.Tyr119Asn
ENST00000472183.5:n.781T>A
ENST00000472183.6:c.352T>A	ENSP00000499673.2:p.Tyr118Asn
ENST00000475610.2:n.1035T>A
ENST00000476196.5:n.822T>A
ENST00000476935.5:n.518T>A
ENST00000476935.6:c.307T>A	ENSP00000499409.2:p.Tyr103Asn
ENST00000477931.5:n.644T>A
ENST00000478585.5:n.542T>A
ENST00000478585.6:c.310T>A	ENSP00000499762.2:p.Tyr104Asn
ENST00000480232.5:n.548T>A
ENST00000480232.6:c.355T>A	ENSP00000499545.2:p.Tyr119Asn
ENST00000480975.5:n.528T>A
ENST00000481039.5:n.446T>A
ENST00000481039.6:c.310T>A	ENSP00000499767.2:p.Tyr104Asn
ENST00000482112.5:n.603T>A
ENST00000482112.6:c.307T>A	ENSP00000499794.2:p.Tyr103Asn
ENST00000485673.6:c.310T>A	ENSP00000499334.2:p.Tyr104Asn
ENST00000487862.5:n.763T>A
ENST00000487981.5:n.266T>A
ENST00000488546.5:n.388T>A
ENST00000488546.6:c.310T>A	ENSP00000499332.2:p.Tyr104Asn
ENST00000488652.5:n.619T>A
ENST00000488652.6:c.352T>A	ENSP00000499435.2:p.Tyr118Asn
ENST00000490374.5:n.647T>A
ENST00000490374.6:n.694T>A
ENST00000492907.5:n.480T>A
ENST00000492907.6:c.310T>A	ENSP00000499443.2:p.Tyr104Asn
ENST00000493958.5:n.148T>A
ENST00000494081.5:n.272T>A
ENST00000496934.5:n.1818T>A
ENST00000603546.1:c.352T>A	ENSP00000474802.1:p.Tyr118Asn
ENST00000603546.2:c.352T>A	ENSP00000474802.2:p.Tyr118Asn
ENST00000604005.5:c.352T>A	ENSP00000474219.1:p.Tyr118Asn
ENST00000604005.6:c.352T>A	ENSP00000474219.2:p.Tyr118Asn
ENST00000657090.1:c.352T>A	ENSP00000499380.1:p.Tyr118Asn
ENST00000663479.1:c.355T>A	ENSP00000499353.1:p.Tyr119Asn
ENST00000663479.2:c.355T>A	ENSP00000499353.2:p.Tyr119Asn
ENST00000667293.1:c.400T>A	ENSP00000499293.1:p.Tyr134Asn
ENST00000667293.2:c.352T>A	ENSP00000499293.2:p.Tyr118Asn
ENST00000676826.1:c.2461T>A
ENST00000676826.2:c.2461T>A	ENSP00000504675.2:p.Tyr821Asn
ENST00000682092.1:n.1035T>A
ENST00000682134.1:n.2455T>A
ENST00000682411.1:n.2624T>A
ENST00000682590.1:n.1035T>A
ENST00000682680.1:n.1049T>A
ENST00000682803.1:c.202T>A	ENSP00000507069.1:p.Tyr68Asn
ENST00000682829.1:n.2857T>A
ENST00000682917.1:n.1057T>A
ENST00000682986.1:n.1035T>A
ENST00000683015.1:c.1299T>A	ENSP00000506815.1:n.1299T>A
ENST00000683632.1:n.1044T>A
ENST00000683932.1:n.2624T>A
ENST00000684284.1:n.2907T>A
ENST00000684466.1:n.1035T>A
ENST00000684644.1:n.1035T>A
ENST00000684761.1:n.1035T>A
XM_017027812.2:c.2461T>A	XP_016883301.1:p.Tyr821Asn
XM_017027813.2:c.2416T>A	XP_016883302.1:p.Tyr806Asn
XM_017027814.2:c.2413T>A	XP_016883303.1:p.Tyr805Asn
XM_017027815.1:c.388T>A	XP_016883304.1:p.Tyr130Asn
XM_017027816.1:c.307T>A	XP_016883305.1:p.Tyr103Asn
XM_017027817.1:c.307T>A	XP_016883306.1:p.Tyr103Asn
XM_017027818.2:c.307T>A	XP_016883307.1:p.Tyr103Asn
XM_017027819.1:c.307T>A	XP_016883308.1:p.Tyr103Asn
XM_017027820.1:c.307T>A	XP_016883309.1:p.Tyr103Asn
XM_017027821.1:c.*432T>A	XP_016883310.1:n.*432T>A
XM_024451872.1:c.433T>A	XP_024307640.1:p.Tyr145Asn
XM_024451873.1:c.352T>A	XP_024307641.1:p.Tyr118Asn
XM_024451874.1:c.352T>A	XP_024307642.1:p.Tyr118Asn
XM_024451875.1:c.352T>A	XP_024307643.1:p.Tyr118Asn
XR_002958471.1:n.1236T>A