Canonical Allele Identifier: CA2653525866

Gene: GNAS

Linked Data

• gnomAD v4: 20-58903143-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58903143C>A , CM000682.2:g.58903143C>A	GRCh38
NC_000020.10:g.57478198C>A , CM000682.1:g.57478198C>A	GRCh37
NC_000020.9:g.56911593C>A	NCBI36
NG_016194.1:g.68404C>A
NG_016194.2:g.68404C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000349036.9:c.2142-388C>A	ENSP00000265621.6:n.2142-388C>A
ENST00000419558.7:c.*116-388C>A	ENSP00000416234.2:n.*116-388C>A
ENST00000453292.7:c.854-385C>A	ENSP00000392000.2:n.854-385C>A
ENST00000462499.6:c.36-385C>A	ENSP00000499758.2:n.36-385C>A
ENST00000464624.7:c.*100-388C>A	ENSP00000499607.2:n.*100-388C>A
ENST00000464788.6:c.81-388C>A	ENSP00000499239.2:n.81-388C>A
ENST00000467227.6:c.36-385C>A	ENSP00000499681.2:n.36-385C>A
ENST00000467321.6:c.81-388C>A	ENSP00000499523.2:n.81-388C>A
ENST00000468895.6:c.258-388C>A	ENSP00000499551.2:n.258-388C>A
ENST00000469431.6:c.81-388C>A	ENSP00000499654.2:n.81-388C>A
ENST00000470512.6:c.81-385C>A	ENSP00000499552.2:n.81-385C>A
ENST00000472183.6:c.81-388C>A	ENSP00000499673.2:n.81-388C>A
ENST00000475610.2:n.376C>A
ENST00000476935.6:c.36-388C>A	ENSP00000499409.2:n.36-388C>A
ENST00000478585.6:c.36-385C>A	ENSP00000499762.2:n.36-385C>A
ENST00000480232.6:c.81-385C>A	ENSP00000499545.2:n.81-385C>A
ENST00000481039.6:c.36-385C>A	ENSP00000499767.2:n.36-385C>A
ENST00000482112.6:c.36-388C>A	ENSP00000499794.2:n.36-388C>A
ENST00000485673.6:c.36-385C>A	ENSP00000499334.2:n.36-385C>A
ENST00000488546.6:c.36-385C>A	ENSP00000499332.2:n.36-385C>A
ENST00000488652.6:c.81-388C>A	ENSP00000499435.2:n.81-388C>A
ENST00000492907.6:c.36-385C>A	ENSP00000499443.2:n.36-385C>A
ENST00000603546.2:c.81-388C>A	ENSP00000474802.2:n.81-388C>A
ENST00000604005.6:c.81-388C>A	ENSP00000474219.2:n.81-388C>A
ENST00000663479.2:c.81-385C>A	ENSP00000499353.2:n.81-385C>A
ENST00000667293.2:c.81-388C>A	ENSP00000499293.2:n.81-388C>A
ENST00000676826.2:c.2187-385C>A	ENSP00000504675.2:n.2187-385C>A
ENST00000682092.1:n.376C>A
ENST00000682134.1:n.2184-388C>A
ENST00000682411.1:n.374C>A
ENST00000682590.1:n.376C>A
ENST00000682680.1:n.304C>A
ENST00000682803.1:c.-70-388C>A	ENSP00000507069.1:n.-70-388C>A
ENST00000682829.1:n.2586-388C>A
ENST00000682917.1:n.312C>A
ENST00000682986.1:n.376C>A
ENST00000683015.1:c.1028-388C>A	ENSP00000506815.1:n.1028-388C>A
ENST00000683632.1:n.385C>A
ENST00000683932.1:n.374C>A
ENST00000684284.1:n.2636-388C>A
ENST00000684466.1:n.376C>A
ENST00000684644.1:n.376C>A
ENST00000684761.1:n.376C>A
ENST00000306090.12:c.162-388C>A	ENSP00000304472.12:n.162-388C>A
ENST00000349036.8:c.2142-388C>A	ENSP00000265621.5:n.2142-388C>A
ENST00000354359.12:c.258-385C>A	ENSP00000346328.7:n.258-385C>A
ENST00000371085.8:c.258-388C>A MANE Select	ENSP00000360126.3:n.258-388C>A
ENST00000371100.9:c.2187-388C>A MANE Plus Clinical	ENSP00000360141.3:n.2187-388C>A
ENST00000419558.6:c.*116-388C>A	ENSP00000416234.2:n.*116-388C>A
ENST00000453292.6:c.*116-385C>A	ENSP00000392000.2:n.*116-385C>A
ENST00000461152.6:c.983-385C>A	ENSP00000499274.1:n.983-385C>A
ENST00000490374.6:n.423-388C>A
ENST00000657090.1:c.81-388C>A	ENSP00000499380.1:n.81-388C>A
ENST00000663479.1:c.81-385C>A	ENSP00000499353.1:n.81-385C>A
ENST00000667293.1:c.129-388C>A	ENSP00000499293.1:n.129-388C>A
ENST00000676826.1:c.2187-385C>A	ENSP00000504675.1:n.2187-385C>A
ENST00000265620.11:c.213-388C>A	ENSP00000265620.7:n.213-388C>A
ENST00000306090.11:c.94-6624C>A	ENSP00000304472.11:n.94-6624C>A
ENST00000313949.11:c.*161-388C>A	ENSP00000323571.7:n.*161-388C>A
ENST00000349036.7:c.306-385C>A	ENSP00000265621.4:n.306-385C>A
ENST00000354359.11:c.258-385C>A	ENSP00000346328.7:n.258-385C>A
ENST00000371075.7:c.*161-385C>A MANE Plus Clinical	ENSP00000360115.3:n.*161-385C>A
ENST00000371085.7:c.258-388C>A	ENSP00000360126.3:n.258-388C>A
ENST00000371095.7:c.213-385C>A	ENSP00000360136.3:n.213-385C>A
ENST00000371100.8:c.2187-388C>A	ENSP00000360141.3:n.2187-388C>A
ENST00000371102.8:c.2142-385C>A	ENSP00000360143.4:n.2142-385C>A
ENST00000419558.5:c.457-388C>A
ENST00000450130.5:c.301-388C>A
ENST00000453292.5:c.617-385C>A	ENSP00000392000.1:n.617-385C>A
ENST00000461152.5:n.221-385C>A
ENST00000462499.5:n.332-385C>A
ENST00000464624.6:n.2474-388C>A
ENST00000464788.5:n.186-388C>A
ENST00000467227.5:n.196-385C>A
ENST00000467321.5:n.273-388C>A
ENST00000468895.5:n.124-385C>A
ENST00000469431.5:n.375-388C>A
ENST00000470512.5:n.329-385C>A
ENST00000472183.5:n.510-388C>A
ENST00000476196.5:n.163C>A
ENST00000476935.5:n.247-388C>A
ENST00000477931.5:n.373-388C>A
ENST00000478585.5:n.268-385C>A
ENST00000480232.5:n.274-385C>A
ENST00000480975.5:n.257-388C>A
ENST00000481039.5:n.175-388C>A
ENST00000482112.5:n.332-388C>A
ENST00000483387.1:n.568-388C>A
ENST00000485673.5:n.500-385C>A
ENST00000487862.5:n.489-385C>A
ENST00000488546.5:n.114-385C>A
ENST00000488652.5:n.348-388C>A
ENST00000490374.5:n.373-385C>A
ENST00000492907.5:n.206-385C>A
ENST00000496934.5:n.1547-388C>A
ENST00000603546.1:c.81-388C>A	ENSP00000474802.1:n.81-388C>A
ENST00000604005.5:c.81-388C>A	ENSP00000474219.1:n.81-388C>A
NM_000516.4:c.258-388C>A	NP_000507.1:n.258-388C>A
NM_000516.5:c.258-388C>A	NP_000507.1:n.258-388C>A
NM_001077488.2:c.258-385C>A	NP_001070956.1:n.258-385C>A
NM_001077488.3:c.258-385C>A	NP_001070956.1:n.258-385C>A
NM_001077489.2:c.213-388C>A	NP_001070957.1:n.213-388C>A
NM_001077489.3:c.213-388C>A	NP_001070957.1:n.213-388C>A
NM_001077490.1:c.*119-388C>A	NP_001070958.1:n.*119-388C>A
NM_001077490.2:c.*119-388C>A	NP_001070958.1:n.*119-388C>A
NM_001309840.1:c.81-388C>A	NP_001296769.1:n.81-388C>A
NM_001309861.1:c.81-388C>A	NP_001296790.1:n.81-388C>A
NM_016592.2:c.*161-385C>A	NP_057676.1:n.*161-385C>A
NM_016592.3:c.*161-385C>A	NP_057676.1:n.*161-385C>A
NM_080425.2:c.2187-388C>A	NP_536350.2:n.2187-388C>A
NM_080425.3:c.2187-388C>A	NP_536350.2:n.2187-388C>A
NM_080426.2:c.213-385C>A	NP_536351.1:n.213-385C>A
NM_080426.3:c.213-385C>A	NP_536351.1:n.213-385C>A
NR_003259.1:c.-4294966948-388C>A
XM_017027812.2:c.2187-385C>A	XP_016883301.1:n.2187-385C>A
XM_017027813.2:c.2142-385C>A	XP_016883302.1:n.2142-385C>A
XM_017027814.2:c.2142-388C>A	XP_016883303.1:n.2142-388C>A
XM_017027815.1:c.117-388C>A	XP_016883304.1:n.117-388C>A
XM_017027816.1:c.36-388C>A	XP_016883305.1:n.36-388C>A
XM_017027817.1:c.36-388C>A	XP_016883306.1:n.36-388C>A
XM_017027818.2:c.36-388C>A	XP_016883307.1:n.36-388C>A
XM_017027819.1:c.36-388C>A	XP_016883308.1:n.36-388C>A
XM_017027820.1:c.36-388C>A	XP_016883309.1:n.36-388C>A
XM_017027821.1:c.*161-388C>A	XP_016883310.1:n.*161-388C>A
XM_017027822.1:c.*116-388C>A	XP_016883311.1:n.*116-388C>A
XM_024451872.1:c.162-388C>A	XP_024307640.1:n.162-388C>A
XM_024451873.1:c.81-388C>A	XP_024307641.1:n.81-388C>A
XM_024451874.1:c.81-388C>A	XP_024307642.1:n.81-388C>A
XM_024451875.1:c.81-388C>A	XP_024307643.1:n.81-388C>A
XR_002958471.1:n.965-388C>A
NM_000516.6:c.258-388C>A	NP_000507.1:n.258-388C>A
NM_001077488.4:c.258-385C>A	NP_001070956.1:n.258-385C>A
NM_001077489.4:c.213-388C>A	NP_001070957.1:n.213-388C>A
NM_001309840.2:c.81-388C>A	NP_001296769.1:n.81-388C>A
NM_001309861.2:c.81-388C>A	NP_001296790.1:n.81-388C>A
NM_016592.4:c.*161-385C>A	NP_057676.1:n.*161-385C>A
NM_080426.4:c.213-385C>A	NP_536351.1:n.213-385C>A
NM_000516.7:c.258-388C>A MANE Select	NP_000507.1:n.258-388C>A
NM_001077488.5:c.258-385C>A	NP_001070956.1:n.258-385C>A
NM_001077490.3:c.*119-388C>A	NP_001070958.1:n.*119-388C>A
NM_016592.5:c.*161-385C>A MANE Plus Clinical	NP_057676.1:n.*161-385C>A
NM_080425.4:c.2187-388C>A MANE Plus Clinical	NP_536350.2:n.2187-388C>A