Canonical Allele Identifier: CA9927027

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903579G>A , CM000682.2:g.58903579G>A	GRCh38
NC_000020.10:g.57478634G>A , CM000682.1:g.57478634G>A	GRCh37
NC_000020.9:g.56912029G>A	NCBI36
NG_016194.1:g.68840G>A
NG_016194.2:g.68840G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.306G>A MANE Select	NP_000507.1:p.Ala102=
ENST00000371085.8:c.306G>A MANE Select	ENSP00000360126.3:p.Ala102=
NM_016592.5:c.*212G>A MANE Plus Clinical	NP_057676.1:n.*212G>A
NM_080425.4:c.2235G>A MANE Plus Clinical	NP_536350.2:p.Ala745=
ENST00000371075.7:c.*212G>A MANE Plus Clinical	ENSP00000360115.3:n.*212G>A
ENST00000371100.9:c.2235G>A MANE Plus Clinical	ENSP00000360141.3:p.Ala745=
NM_000516.4:c.306G>A	NP_000507.1:p.Ala102=
NM_000516.5:c.306G>A	NP_000507.1:p.Ala102=
NM_000516.6:c.306G>A	NP_000507.1:p.Ala102=
NM_001077488.2:c.309G>A	NP_001070956.1:p.Ala103=
NM_001077488.3:c.309G>A	NP_001070956.1:p.Ala103=
NM_001077488.4:c.309G>A	NP_001070956.1:p.Ala103=
NM_001077488.5:c.309G>A	NP_001070956.1:p.Ala103=
NM_001077489.2:c.261G>A	NP_001070957.1:p.Ala87=
NM_001077489.3:c.261G>A	NP_001070957.1:p.Ala87=
NM_001077489.4:c.261G>A	NP_001070957.1:p.Ala87=
NM_001077490.1:c.*167G>A	NP_001070958.1:n.*167G>A
NM_001077490.2:c.*167G>A	NP_001070958.1:n.*167G>A
NM_001077490.3:c.*167G>A	NP_001070958.1:n.*167G>A
NM_001309840.1:c.129G>A	NP_001296769.1:p.Ala43=
NM_001309840.2:c.129G>A	NP_001296769.1:p.Ala43=
NM_001309861.1:c.129G>A	NP_001296790.1:p.Ala43=
NM_001309861.2:c.129G>A	NP_001296790.1:p.Ala43=
NM_016592.2:c.*212G>A	NP_057676.1:n.*212G>A
NM_016592.3:c.*212G>A	NP_057676.1:n.*212G>A
NM_016592.4:c.*212G>A	NP_057676.1:n.*212G>A
NM_080425.2:c.2235G>A	NP_536350.2:p.Ala745=
NM_080425.3:c.2235G>A	NP_536350.2:p.Ala745=
NM_080426.2:c.264G>A	NP_536351.1:p.Ala88=
NM_080426.3:c.264G>A	NP_536351.1:p.Ala88=
NM_080426.4:c.264G>A	NP_536351.1:p.Ala88=
NR_003259.1:c.-4294966900G>A
ENST00000265620.11:c.261G>A	ENSP00000265620.7:p.Ala87=
ENST00000306090.11:c.94-6188G>A	ENSP00000304472.11:n.94-6188G>A
ENST00000306090.12:c.210G>A	ENSP00000304472.12:p.Ala70=
ENST00000313949.11:c.*209G>A	ENSP00000323571.7:n.*209G>A
ENST00000349036.7:c.357G>A	ENSP00000265621.4:p.Ala119=
ENST00000349036.8:c.2190G>A	ENSP00000265621.5:p.Ala730=
ENST00000349036.9:c.2190G>A	ENSP00000265621.6:p.Ala730=
ENST00000354359.11:c.309G>A	ENSP00000346328.7:p.Ala103=
ENST00000354359.12:c.309G>A	ENSP00000346328.7:p.Ala103=
ENST00000371085.7:c.306G>A	ENSP00000360126.3:p.Ala102=
ENST00000371095.7:c.264G>A	ENSP00000360136.3:p.Ala88=
ENST00000371100.8:c.2235G>A	ENSP00000360141.3:p.Ala745=
ENST00000371102.8:c.2193G>A	ENSP00000360143.4:p.Ala731=
ENST00000419558.5:c.505G>A
ENST00000419558.6:c.*164G>A	ENSP00000416234.2:n.*164G>A
ENST00000419558.7:c.*164G>A	ENSP00000416234.2:n.*164G>A
ENST00000450130.5:c.349G>A
ENST00000453292.7:c.905G>A	ENSP00000392000.2:n.905G>A
ENST00000461152.5:n.272G>A
ENST00000461152.6:c.1034G>A	ENSP00000499274.1:n.1034G>A
ENST00000462499.5:n.383G>A
ENST00000462499.6:c.87G>A	ENSP00000499758.2:p.Ala29=
ENST00000464624.6:n.2522G>A
ENST00000464624.7:c.*148G>A	ENSP00000499607.2:n.*148G>A
ENST00000464788.5:n.234G>A
ENST00000464788.6:c.129G>A	ENSP00000499239.2:p.Ala43=
ENST00000467227.5:n.247G>A
ENST00000467227.6:c.87G>A	ENSP00000499681.2:p.Ala29=
ENST00000467321.5:n.321G>A
ENST00000467321.6:c.129G>A	ENSP00000499523.2:p.Ala43=
ENST00000468895.5:n.175G>A
ENST00000468895.6:c.306G>A	ENSP00000499551.2:p.Ala102=
ENST00000469431.5:n.423G>A
ENST00000469431.6:c.129G>A	ENSP00000499654.2:p.Ala43=
ENST00000470512.5:n.380G>A
ENST00000470512.6:c.132G>A	ENSP00000499552.2:p.Ala44=
ENST00000472183.5:n.558G>A
ENST00000472183.6:c.129G>A	ENSP00000499673.2:p.Ala43=
ENST00000475610.2:n.812G>A
ENST00000476196.5:n.599G>A
ENST00000476935.5:n.295G>A
ENST00000476935.6:c.84G>A	ENSP00000499409.2:p.Ala28=
ENST00000477931.5:n.421G>A
ENST00000478585.5:n.319G>A
ENST00000478585.6:c.87G>A	ENSP00000499762.2:p.Ala29=
ENST00000480232.5:n.325G>A
ENST00000480232.6:c.132G>A	ENSP00000499545.2:p.Ala44=
ENST00000480975.5:n.305G>A
ENST00000481039.5:n.223G>A
ENST00000481039.6:c.87G>A	ENSP00000499767.2:p.Ala29=
ENST00000482112.5:n.380G>A
ENST00000482112.6:c.84G>A	ENSP00000499794.2:p.Ala28=
ENST00000485673.5:n.551G>A
ENST00000485673.6:c.87G>A	ENSP00000499334.2:p.Ala29=
ENST00000487862.5:n.540G>A
ENST00000487981.5:n.43G>A
ENST00000488546.5:n.165G>A
ENST00000488546.6:c.87G>A	ENSP00000499332.2:p.Ala29=
ENST00000488652.5:n.396G>A
ENST00000488652.6:c.129G>A	ENSP00000499435.2:p.Ala43=
ENST00000490374.5:n.424G>A
ENST00000490374.6:n.471G>A
ENST00000492907.5:n.257G>A
ENST00000492907.6:c.87G>A	ENSP00000499443.2:p.Ala29=
ENST00000494081.5:n.49G>A
ENST00000496934.5:n.1595G>A
ENST00000603546.1:c.129G>A	ENSP00000474802.1:p.Ala43=
ENST00000603546.2:c.129G>A	ENSP00000474802.2:p.Ala43=
ENST00000604005.5:c.129G>A	ENSP00000474219.1:p.Ala43=
ENST00000604005.6:c.129G>A	ENSP00000474219.2:p.Ala43=
ENST00000657090.1:c.129G>A	ENSP00000499380.1:p.Ala43=
ENST00000663479.1:c.132G>A	ENSP00000499353.1:p.Ala44=
ENST00000663479.2:c.132G>A	ENSP00000499353.2:p.Ala44=
ENST00000667293.1:c.177G>A	ENSP00000499293.1:p.Ala59=
ENST00000667293.2:c.129G>A	ENSP00000499293.2:p.Ala43=
ENST00000676826.1:c.2238G>A	ENSP00000504675.1:p.Ala746=
ENST00000676826.2:c.2238G>A	ENSP00000504675.2:p.Ala746=
ENST00000682092.1:n.812G>A
ENST00000682134.1:n.2232G>A
ENST00000682411.1:n.810G>A
ENST00000682590.1:n.812G>A
ENST00000682680.1:n.740G>A
ENST00000682803.1:c.-22G>A	ENSP00000507069.1:n.-22G>A
ENST00000682829.1:n.2634G>A
ENST00000682917.1:n.748G>A
ENST00000682986.1:n.812G>A
ENST00000683015.1:c.1076G>A	ENSP00000506815.1:n.1076G>A
ENST00000683632.1:n.821G>A
ENST00000683932.1:n.810G>A
ENST00000684284.1:n.2684G>A
ENST00000684466.1:n.812G>A
ENST00000684644.1:n.812G>A
ENST00000684761.1:n.812G>A
XM_017027812.2:c.2238G>A	XP_016883301.1:p.Ala746=
XM_017027813.2:c.2193G>A	XP_016883302.1:p.Ala731=
XM_017027814.2:c.2190G>A	XP_016883303.1:p.Ala730=
XM_017027815.1:c.165G>A	XP_016883304.1:p.Ala55=
XM_017027816.1:c.84G>A	XP_016883305.1:p.Ala28=
XM_017027817.1:c.84G>A	XP_016883306.1:p.Ala28=
XM_017027818.2:c.84G>A	XP_016883307.1:p.Ala28=
XM_017027819.1:c.84G>A	XP_016883308.1:p.Ala28=
XM_017027820.1:c.84G>A	XP_016883309.1:p.Ala28=
XM_017027821.1:c.*209G>A	XP_016883310.1:n.*209G>A
XM_017027822.1:c.*164G>A	XP_016883311.1:n.*164G>A
XM_024451872.1:c.210G>A	XP_024307640.1:p.Ala70=
XM_024451873.1:c.129G>A	XP_024307641.1:p.Ala43=
XM_024451874.1:c.129G>A	XP_024307642.1:p.Ala43=
XM_024451875.1:c.129G>A	XP_024307643.1:p.Ala43=
XR_002958471.1:n.1013G>A