Canonical Allele Identifier: CA409451231

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58905444G>A , CM000682.2:g.58905444G>A	GRCh38
NC_000020.10:g.57480499G>A , CM000682.1:g.57480499G>A	GRCh37
NC_000020.9:g.56913894G>A	NCBI36
NG_016194.1:g.70705G>A
NG_016194.2:g.70705G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.494G>A MANE Select	NP_000507.1:p.Arg165His
ENST00000371085.8:c.494G>A MANE Select	ENSP00000360126.3:p.Arg165His
NM_016592.5:c.*400G>A MANE Plus Clinical	NP_057676.1:n.*400G>A
NM_080425.4:c.2423G>A MANE Plus Clinical	NP_536350.2:p.Arg808His
ENST00000371075.7:c.*400G>A MANE Plus Clinical	ENSP00000360115.3:n.*400G>A
ENST00000371100.9:c.2423G>A MANE Plus Clinical	ENSP00000360141.3:p.Arg808His
NM_000516.4:c.494G>A	NP_000507.1:p.Arg165His
NM_000516.5:c.494G>A	NP_000507.1:p.Arg165His
NM_000516.6:c.494G>A	NP_000507.1:p.Arg165His
NM_001077488.2:c.497G>A	NP_001070956.1:p.Arg166His
NM_001077488.3:c.497G>A	NP_001070956.1:p.Arg166His
NM_001077488.4:c.497G>A	NP_001070956.1:p.Arg166His
NM_001077488.5:c.497G>A	NP_001070956.1:p.Arg166His
NM_001077489.2:c.449G>A	NP_001070957.1:p.Arg150His
NM_001077489.3:c.449G>A	NP_001070957.1:p.Arg150His
NM_001077489.4:c.449G>A	NP_001070957.1:p.Arg150His
NM_001077490.1:c.*355G>A	NP_001070958.1:n.*355G>A
NM_001077490.2:c.*355G>A	NP_001070958.1:n.*355G>A
NM_001077490.3:c.*355G>A	NP_001070958.1:n.*355G>A
NM_001309840.1:c.317G>A	NP_001296769.1:p.Arg106His
NM_001309840.2:c.317G>A	NP_001296769.1:p.Arg106His
NM_001309861.1:c.317G>A	NP_001296790.1:p.Arg106His
NM_001309861.2:c.317G>A	NP_001296790.1:p.Arg106His
NM_016592.2:c.*400G>A	NP_057676.1:n.*400G>A
NM_016592.3:c.*400G>A	NP_057676.1:n.*400G>A
NM_016592.4:c.*400G>A	NP_057676.1:n.*400G>A
NM_080425.2:c.2423G>A	NP_536350.2:p.Arg808His
NM_080425.3:c.2423G>A	NP_536350.2:p.Arg808His
NM_080426.2:c.452G>A	NP_536351.1:p.Arg151His
NM_080426.3:c.452G>A	NP_536351.1:p.Arg151His
NM_080426.4:c.452G>A	NP_536351.1:p.Arg151His
NR_003259.1:c.-4294966712G>A
ENST00000265620.11:c.449G>A	ENSP00000265620.7:p.Arg150His
ENST00000306090.11:c.94-4323G>A	ENSP00000304472.11:n.94-4323G>A
ENST00000306090.12:c.398G>A	ENSP00000304472.12:p.Arg133His
ENST00000313949.11:c.*397G>A	ENSP00000323571.7:n.*397G>A
ENST00000349036.7:c.545G>A	ENSP00000265621.4:p.Arg182His
ENST00000349036.8:c.2378G>A	ENSP00000265621.5:p.Arg793His
ENST00000349036.9:c.2378G>A	ENSP00000265621.6:p.Arg793His
ENST00000354359.11:c.497G>A	ENSP00000346328.7:p.Arg166His
ENST00000354359.12:c.497G>A	ENSP00000346328.7:p.Arg166His
ENST00000371085.7:c.494G>A	ENSP00000360126.3:p.Arg165His
ENST00000371095.7:c.452G>A	ENSP00000360136.3:p.Arg151His
ENST00000371100.8:c.2423G>A	ENSP00000360141.3:p.Arg808His
ENST00000371102.8:c.2381G>A	ENSP00000360143.4:p.Arg794His
ENST00000419558.5:c.693G>A
ENST00000419558.6:c.*352G>A	ENSP00000416234.2:n.*352G>A
ENST00000419558.7:c.*352G>A	ENSP00000416234.2:n.*352G>A
ENST00000450130.5:c.537G>A
ENST00000453292.7:c.1093G>A	ENSP00000392000.2:n.1093G>A
ENST00000462499.6:c.275G>A	ENSP00000499758.2:p.Arg92His
ENST00000464624.6:n.2710G>A
ENST00000464624.7:c.*336G>A	ENSP00000499607.2:n.*336G>A
ENST00000464788.5:n.422G>A
ENST00000464788.6:c.317G>A	ENSP00000499239.2:p.Arg106His
ENST00000467227.5:n.435G>A
ENST00000467227.6:c.275G>A	ENSP00000499681.2:p.Arg92His
ENST00000467321.5:n.509G>A
ENST00000467321.6:c.317G>A	ENSP00000499523.2:p.Arg106His
ENST00000468895.5:n.363G>A
ENST00000468895.6:c.494G>A	ENSP00000499551.2:p.Arg165His
ENST00000469431.5:n.611G>A
ENST00000469431.6:c.317G>A	ENSP00000499654.2:p.Arg106His
ENST00000470512.5:n.568G>A
ENST00000470512.6:c.320G>A	ENSP00000499552.2:p.Arg107His
ENST00000472183.5:n.746G>A
ENST00000472183.6:c.317G>A	ENSP00000499673.2:p.Arg106His
ENST00000475610.2:n.1000G>A
ENST00000476196.5:n.787G>A
ENST00000476935.5:n.483G>A
ENST00000476935.6:c.272G>A	ENSP00000499409.2:p.Arg91His
ENST00000477931.5:n.609G>A
ENST00000478585.5:n.507G>A
ENST00000478585.6:c.275G>A	ENSP00000499762.2:p.Arg92His
ENST00000480232.5:n.513G>A
ENST00000480232.6:c.320G>A	ENSP00000499545.2:p.Arg107His
ENST00000480975.5:n.493G>A
ENST00000481039.5:n.411G>A
ENST00000481039.6:c.275G>A	ENSP00000499767.2:p.Arg92His
ENST00000482112.5:n.568G>A
ENST00000482112.6:c.272G>A	ENSP00000499794.2:p.Arg91His
ENST00000485673.6:c.275G>A	ENSP00000499334.2:p.Arg92His
ENST00000487862.5:n.728G>A
ENST00000487981.5:n.231G>A
ENST00000488546.5:n.353G>A
ENST00000488546.6:c.275G>A	ENSP00000499332.2:p.Arg92His
ENST00000488652.5:n.584G>A
ENST00000488652.6:c.317G>A	ENSP00000499435.2:p.Arg106His
ENST00000490374.5:n.612G>A
ENST00000490374.6:n.659G>A
ENST00000492907.5:n.445G>A
ENST00000492907.6:c.275G>A	ENSP00000499443.2:p.Arg92His
ENST00000493958.5:n.113G>A
ENST00000494081.5:n.237G>A
ENST00000496934.5:n.1783G>A
ENST00000603546.1:c.317G>A	ENSP00000474802.1:p.Arg106His
ENST00000603546.2:c.317G>A	ENSP00000474802.2:p.Arg106His
ENST00000604005.5:c.317G>A	ENSP00000474219.1:p.Arg106His
ENST00000604005.6:c.317G>A	ENSP00000474219.2:p.Arg106His
ENST00000657090.1:c.317G>A	ENSP00000499380.1:p.Arg106His
ENST00000663479.1:c.320G>A	ENSP00000499353.1:p.Arg107His
ENST00000663479.2:c.320G>A	ENSP00000499353.2:p.Arg107His
ENST00000667293.1:c.365G>A	ENSP00000499293.1:p.Arg122His
ENST00000667293.2:c.317G>A	ENSP00000499293.2:p.Arg106His
ENST00000676826.1:c.2426G>A	ENSP00000504675.1:p.Arg809His
ENST00000676826.2:c.2426G>A	ENSP00000504675.2:p.Arg809His
ENST00000682092.1:n.1000G>A
ENST00000682134.1:n.2420G>A
ENST00000682411.1:n.2589G>A
ENST00000682590.1:n.1000G>A
ENST00000682680.1:n.1014G>A
ENST00000682803.1:c.167G>A	ENSP00000507069.1:p.Arg56His
ENST00000682829.1:n.2822G>A
ENST00000682917.1:n.1022G>A
ENST00000682986.1:n.1000G>A
ENST00000683015.1:c.1264G>A	ENSP00000506815.1:n.1264G>A
ENST00000683632.1:n.1009G>A
ENST00000683932.1:n.2589G>A
ENST00000684284.1:n.2872G>A
ENST00000684466.1:n.1000G>A
ENST00000684644.1:n.1000G>A
ENST00000684761.1:n.1000G>A
XM_017027812.2:c.2426G>A	XP_016883301.1:p.Arg809His
XM_017027813.2:c.2381G>A	XP_016883302.1:p.Arg794His
XM_017027814.2:c.2378G>A	XP_016883303.1:p.Arg793His
XM_017027815.1:c.353G>A	XP_016883304.1:p.Arg118His
XM_017027816.1:c.272G>A	XP_016883305.1:p.Arg91His
XM_017027817.1:c.272G>A	XP_016883306.1:p.Arg91His
XM_017027818.2:c.272G>A	XP_016883307.1:p.Arg91His
XM_017027819.1:c.272G>A	XP_016883308.1:p.Arg91His
XM_017027820.1:c.272G>A	XP_016883309.1:p.Arg91His
XM_017027821.1:c.*397G>A	XP_016883310.1:n.*397G>A
XM_024451872.1:c.398G>A	XP_024307640.1:p.Arg133His
XM_024451873.1:c.317G>A	XP_024307641.1:p.Arg106His
XM_024451874.1:c.317G>A	XP_024307642.1:p.Arg106His
XM_024451875.1:c.317G>A	XP_024307643.1:p.Arg106His
XR_002958471.1:n.1201G>A