Canonical Allele Identifier: CA409453719

Gene: GNAS

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58910701G>C , CM000682.2:g.58910701G>C	GRCh38
NC_000020.10:g.57485756G>C , CM000682.1:g.57485756G>C	GRCh37
NC_000020.9:g.56919151G>C	NCBI36
NG_016194.1:g.75962G>C
NG_016194.2:g.75962G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000516.7:c.1057G>C MANE Select	NP_000507.1:p.Gly353Arg
ENST00000371085.8:c.1057G>C MANE Select	ENSP00000360126.3:p.Gly353Arg
NM_016592.5:c.*963G>C MANE Plus Clinical	NP_057676.1:n.*963G>C
NM_080425.4:c.2986G>C MANE Plus Clinical	NP_536350.2:p.Gly996Arg
ENST00000371075.7:c.*963G>C MANE Plus Clinical	ENSP00000360115.3:n.*963G>C
ENST00000371100.9:c.2986G>C MANE Plus Clinical	ENSP00000360141.3:p.Gly996Arg
NM_000516.4:c.1057G>C	NP_000507.1:p.Gly353Arg
NM_000516.5:c.1057G>C	NP_000507.1:p.Gly353Arg
NM_000516.6:c.1057G>C	NP_000507.1:p.Gly353Arg
NM_001077488.2:c.1060G>C	NP_001070956.1:p.Gly354Arg
NM_001077488.3:c.1060G>C	NP_001070956.1:p.Gly354Arg
NM_001077488.4:c.1060G>C	NP_001070956.1:p.Gly354Arg
NM_001077488.5:c.1060G>C	NP_001070956.1:p.Gly354Arg
NM_001077489.2:c.1012G>C	NP_001070957.1:p.Gly338Arg
NM_001077489.3:c.1012G>C	NP_001070957.1:p.Gly338Arg
NM_001077489.4:c.1012G>C	NP_001070957.1:p.Gly338Arg
NM_001077490.1:c.*918G>C	NP_001070958.1:n.*918G>C
NM_001077490.2:c.*918G>C	NP_001070958.1:n.*918G>C
NM_001077490.3:c.*918G>C	NP_001070958.1:n.*918G>C
NM_001309840.1:c.880G>C	NP_001296769.1:p.Gly294Arg
NM_001309840.2:c.880G>C	NP_001296769.1:p.Gly294Arg
NM_001309861.1:c.880G>C	NP_001296790.1:p.Gly294Arg
NM_001309861.2:c.880G>C	NP_001296790.1:p.Gly294Arg
NM_016592.2:c.*963G>C	NP_057676.1:n.*963G>C
NM_016592.3:c.*963G>C	NP_057676.1:n.*963G>C
NM_016592.4:c.*963G>C	NP_057676.1:n.*963G>C
NM_080425.2:c.2986G>C	NP_536350.2:p.Gly996Arg
NM_080425.3:c.2986G>C	NP_536350.2:p.Gly996Arg
NM_080426.2:c.1015G>C	NP_536351.1:p.Gly339Arg
NM_080426.3:c.1015G>C	NP_536351.1:p.Gly339Arg
NM_080426.4:c.1015G>C	NP_536351.1:p.Gly339Arg
NR_003259.1:c.-4294966149G>C
ENST00000265620.11:c.1012G>C	ENSP00000265620.7:p.Gly338Arg
ENST00000306090.11:c.349G>C	ENSP00000304472.11:p.Gly117Arg
ENST00000306090.12:c.961G>C	ENSP00000304472.12:p.Gly321Arg
ENST00000313949.11:c.*960G>C	ENSP00000323571.7:n.*960G>C
ENST00000349036.9:c.2941G>C	ENSP00000265621.6:p.Gly981Arg
ENST00000354359.11:c.1060G>C	ENSP00000346328.7:p.Gly354Arg
ENST00000354359.12:c.1060G>C	ENSP00000346328.7:p.Gly354Arg
ENST00000371085.7:c.1057G>C	ENSP00000360126.3:p.Gly353Arg
ENST00000371095.7:c.1015G>C	ENSP00000360136.3:p.Gly339Arg
ENST00000371100.8:c.2986G>C	ENSP00000360141.3:p.Gly996Arg
ENST00000371102.8:c.2944G>C	ENSP00000360143.4:p.Gly982Arg
ENST00000419558.7:c.*915G>C	ENSP00000416234.2:n.*915G>C
ENST00000453292.7:c.1656G>C	ENSP00000392000.2:n.1656G>C
ENST00000462499.6:c.838G>C	ENSP00000499758.2:p.Gly280Arg
ENST00000464624.6:n.3273G>C
ENST00000464624.7:c.*899G>C	ENSP00000499607.2:n.*899G>C
ENST00000464788.6:c.880G>C	ENSP00000499239.2:p.Gly294Arg
ENST00000467227.6:c.838G>C	ENSP00000499681.2:p.Gly280Arg
ENST00000467321.6:c.880G>C	ENSP00000499523.2:p.Gly294Arg
ENST00000468895.6:c.1055G>C	ENSP00000499551.2:p.Trp352Ser
ENST00000469431.6:c.880G>C	ENSP00000499654.2:p.Gly294Arg
ENST00000470512.6:c.883G>C	ENSP00000499552.2:p.Gly295Arg
ENST00000472183.6:c.880G>C	ENSP00000499673.2:p.Gly294Arg
ENST00000475610.1:n.413G>C
ENST00000475610.2:n.1815G>C
ENST00000476196.5:n.1350G>C
ENST00000476935.6:c.835G>C	ENSP00000499409.2:p.Gly279Arg
ENST00000477931.5:n.1172G>C
ENST00000478585.6:c.838G>C	ENSP00000499762.2:p.Gly280Arg
ENST00000480232.6:c.883G>C	ENSP00000499545.2:p.Gly295Arg
ENST00000480975.5:n.1056G>C
ENST00000481039.6:c.838G>C	ENSP00000499767.2:p.Gly280Arg
ENST00000482112.6:c.835G>C	ENSP00000499794.2:p.Gly279Arg
ENST00000485673.6:c.838G>C	ENSP00000499334.2:p.Gly280Arg
ENST00000487862.5:n.1291G>C
ENST00000488546.6:c.838G>C	ENSP00000499332.2:p.Gly280Arg
ENST00000488652.6:c.880G>C	ENSP00000499435.2:p.Gly294Arg
ENST00000492907.6:c.838G>C	ENSP00000499443.2:p.Gly280Arg
ENST00000496934.5:n.2346G>C
ENST00000603546.2:c.880G>C	ENSP00000474802.2:p.Gly294Arg
ENST00000604005.6:c.880G>C	ENSP00000474219.2:p.Gly294Arg
ENST00000656419.1:c.586G>C	ENSP00000499614.1:p.Gly196Arg
ENST00000657090.1:c.880G>C	ENSP00000499380.1:p.Gly294Arg
ENST00000663479.2:c.883G>C	ENSP00000499353.2:p.Gly295Arg
ENST00000667293.1:c.928G>C	ENSP00000499293.1:p.Gly310Arg
ENST00000667293.2:c.880G>C	ENSP00000499293.2:p.Gly294Arg
ENST00000676826.2:c.2989G>C	ENSP00000504675.2:p.Gly997Arg
ENST00000682092.1:n.5341G>C
ENST00000682134.1:n.2983G>C
ENST00000682411.1:n.3152G>C
ENST00000682590.1:n.5244G>C
ENST00000682680.1:n.5258G>C
ENST00000682803.1:c.730G>C	ENSP00000507069.1:p.Gly244Arg
ENST00000682829.1:n.3385G>C
ENST00000682917.1:n.1585G>C
ENST00000682986.1:n.6153G>C
ENST00000683015.1:c.1827G>C	ENSP00000506815.1:n.1827G>C
ENST00000683632.1:n.5839G>C
ENST00000683932.1:n.6833G>C
ENST00000684284.1:n.3435G>C
ENST00000684466.1:n.1696G>C
ENST00000684644.1:n.5377G>C
ENST00000684761.1:n.1550G>C
XM_017027812.2:c.2989G>C	XP_016883301.1:p.Gly997Arg
XM_017027813.2:c.2944G>C	XP_016883302.1:p.Gly982Arg
XM_017027814.2:c.2941G>C	XP_016883303.1:p.Gly981Arg
XM_017027815.1:c.916G>C	XP_016883304.1:p.Gly306Arg
XM_017027816.1:c.835G>C	XP_016883305.1:p.Gly279Arg
XM_017027817.1:c.835G>C	XP_016883306.1:p.Gly279Arg
XM_017027818.2:c.835G>C	XP_016883307.1:p.Gly279Arg
XM_017027819.1:c.835G>C	XP_016883308.1:p.Gly279Arg
XM_017027820.1:c.835G>C	XP_016883309.1:p.Gly279Arg
XM_024451872.1:c.961G>C	XP_024307640.1:p.Gly321Arg
XM_024451873.1:c.880G>C	XP_024307641.1:p.Gly294Arg
XM_024451874.1:c.880G>C	XP_024307642.1:p.Gly294Arg
XM_024451875.1:c.880G>C	XP_024307643.1:p.Gly294Arg
XR_002958471.1:n.1764G>C