Canonical Allele Identifier: CA409453812

Gene: GNAS

Linked Data

• dbSNP Id: rs137854537
• MyVariant Identifiers: chr20:g.57485795G>C (hg19) ; chr20:g.58910740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58910740G>C , CM000682.2:g.58910740G>C	GRCh38
NC_000020.10:g.57485795G>C , CM000682.1:g.57485795G>C	GRCh37
NC_000020.9:g.56919190G>C	NCBI36
NG_016194.1:g.76001G>C
NG_016194.2:g.76001G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349036.9:c.2980G>C	ENSP00000265621.6:p.Ala994Pro
ENST00000419558.7:c.*954G>C	ENSP00000416234.2:n.*954G>C
ENST00000453292.7:c.1695G>C	ENSP00000392000.2:n.1695G>C
ENST00000462499.6:c.877G>C	ENSP00000499758.2:p.Ala293Pro
ENST00000464624.7:c.*938G>C	ENSP00000499607.2:n.*938G>C
ENST00000464788.6:c.919G>C	ENSP00000499239.2:p.Ala307Pro
ENST00000467227.6:c.877G>C	ENSP00000499681.2:p.Ala293Pro
ENST00000467321.6:c.919G>C	ENSP00000499523.2:p.Ala307Pro
ENST00000468895.6:c.1094G>C	ENSP00000499551.2:p.Arg365Pro
ENST00000469431.6:c.919G>C	ENSP00000499654.2:p.Ala307Pro
ENST00000470512.6:c.922G>C	ENSP00000499552.2:p.Ala308Pro
ENST00000472183.6:c.919G>C	ENSP00000499673.2:p.Ala307Pro
ENST00000475610.2:n.1854G>C
ENST00000476935.6:c.874G>C	ENSP00000499409.2:p.Ala292Pro
ENST00000478585.6:c.877G>C	ENSP00000499762.2:p.Ala293Pro
ENST00000480232.6:c.922G>C	ENSP00000499545.2:p.Ala308Pro
ENST00000481039.6:c.877G>C	ENSP00000499767.2:p.Ala293Pro
ENST00000482112.6:c.874G>C	ENSP00000499794.2:p.Ala292Pro
ENST00000485673.6:c.877G>C	ENSP00000499334.2:p.Ala293Pro
ENST00000488546.6:c.877G>C	ENSP00000499332.2:p.Ala293Pro
ENST00000488652.6:c.919G>C	ENSP00000499435.2:p.Ala307Pro
ENST00000492907.6:c.877G>C	ENSP00000499443.2:p.Ala293Pro
ENST00000603546.2:c.919G>C	ENSP00000474802.2:p.Ala307Pro
ENST00000604005.6:c.919G>C	ENSP00000474219.2:p.Ala307Pro
ENST00000663479.2:c.922G>C	ENSP00000499353.2:p.Ala308Pro
ENST00000667293.2:c.919G>C	ENSP00000499293.2:p.Ala307Pro
ENST00000676826.2:c.3028G>C	ENSP00000504675.2:p.Ala1010Pro
ENST00000682092.1:n.5380G>C
ENST00000682134.1:n.3022G>C
ENST00000682411.1:n.3191G>C
ENST00000682590.1:n.5283G>C
ENST00000682680.1:n.5297G>C
ENST00000682803.1:c.769G>C	ENSP00000507069.1:p.Ala257Pro
ENST00000682829.1:n.3424G>C
ENST00000682917.1:n.1624G>C
ENST00000682986.1:n.6192G>C
ENST00000683015.1:c.1866G>C	ENSP00000506815.1:n.1866G>C
ENST00000683632.1:n.5878G>C
ENST00000683932.1:n.6872G>C
ENST00000684284.1:n.3474G>C
ENST00000684466.1:n.1735G>C
ENST00000684644.1:n.5416G>C
ENST00000684761.1:n.1589G>C
ENST00000306090.12:c.1000G>C	ENSP00000304472.12:p.Ala334Pro
ENST00000354359.12:c.1099G>C	ENSP00000346328.7:p.Ala367Pro
ENST00000371085.8:c.1096G>C MANE Select	ENSP00000360126.3:p.Ala366Pro
ENST00000371100.9:c.3025G>C MANE Plus Clinical	ENSP00000360141.3:p.Ala1009Pro
ENST00000656419.1:c.625G>C	ENSP00000499614.1:p.Ala209Pro
ENST00000657090.1:c.919G>C	ENSP00000499380.1:p.Ala307Pro
ENST00000667293.1:c.967G>C	ENSP00000499293.1:p.Ala323Pro
ENST00000265620.11:c.1051G>C	ENSP00000265620.7:p.Ala351Pro
ENST00000306090.11:c.388G>C	ENSP00000304472.11:p.Ala130Pro
ENST00000313949.11:c.*999G>C	ENSP00000323571.7:n.*999G>C
ENST00000354359.11:c.1099G>C	ENSP00000346328.7:p.Ala367Pro
ENST00000371075.7:c.*1002G>C MANE Plus Clinical	ENSP00000360115.3:n.*1002G>C
ENST00000371085.7:c.1096G>C	ENSP00000360126.3:p.Ala366Pro
ENST00000371095.7:c.1054G>C	ENSP00000360136.3:p.Ala352Pro
ENST00000371100.8:c.3025G>C	ENSP00000360141.3:p.Ala1009Pro
ENST00000371102.8:c.2983G>C	ENSP00000360143.4:p.Ala995Pro
ENST00000464624.6:n.3312G>C
ENST00000475610.1:n.452G>C
ENST00000476196.5:n.1389G>C
ENST00000477931.5:n.1211G>C
ENST00000480975.5:n.1095G>C
ENST00000487862.5:n.1330G>C
ENST00000496934.5:n.2385G>C
NM_000516.4:c.1096G>C	NP_000507.1:p.Ala366Pro
NM_000516.5:c.1096G>C	NP_000507.1:p.Ala366Pro
NM_001077488.2:c.1099G>C	NP_001070956.1:p.Ala367Pro
NM_001077488.3:c.1099G>C	NP_001070956.1:p.Ala367Pro
NM_001077489.2:c.1051G>C	NP_001070957.1:p.Ala351Pro
NM_001077489.3:c.1051G>C	NP_001070957.1:p.Ala351Pro
NM_001077490.1:c.*957G>C	NP_001070958.1:n.*957G>C
NM_001077490.2:c.*957G>C	NP_001070958.1:n.*957G>C
NM_001309840.1:c.919G>C	NP_001296769.1:p.Ala307Pro
NM_001309861.1:c.919G>C	NP_001296790.1:p.Ala307Pro
NM_016592.2:c.*1002G>C	NP_057676.1:n.*1002G>C
NM_016592.3:c.*1002G>C	NP_057676.1:n.*1002G>C
NM_080425.2:c.3025G>C	NP_536350.2:p.Ala1009Pro
NM_080425.3:c.3025G>C	NP_536350.2:p.Ala1009Pro
NM_080426.2:c.1054G>C	NP_536351.1:p.Ala352Pro
NM_080426.3:c.1054G>C	NP_536351.1:p.Ala352Pro
NR_003259.1:c.-4294966110G>C
XM_017027812.2:c.3028G>C	XP_016883301.1:p.Ala1010Pro
XM_017027813.2:c.2983G>C	XP_016883302.1:p.Ala995Pro
XM_017027814.2:c.2980G>C	XP_016883303.1:p.Ala994Pro
XM_017027815.1:c.955G>C	XP_016883304.1:p.Ala319Pro
XM_017027816.1:c.874G>C	XP_016883305.1:p.Ala292Pro
XM_017027817.1:c.874G>C	XP_016883306.1:p.Ala292Pro
XM_017027818.2:c.874G>C	XP_016883307.1:p.Ala292Pro
XM_017027819.1:c.874G>C	XP_016883308.1:p.Ala292Pro
XM_017027820.1:c.874G>C	XP_016883309.1:p.Ala292Pro
XM_024451872.1:c.1000G>C	XP_024307640.1:p.Ala334Pro
XM_024451873.1:c.919G>C	XP_024307641.1:p.Ala307Pro
XM_024451874.1:c.919G>C	XP_024307642.1:p.Ala307Pro
XM_024451875.1:c.919G>C	XP_024307643.1:p.Ala307Pro
XR_002958471.1:n.1803G>C
NM_000516.6:c.1096G>C	NP_000507.1:p.Ala366Pro
NM_001077488.4:c.1099G>C	NP_001070956.1:p.Ala367Pro
NM_001077489.4:c.1051G>C	NP_001070957.1:p.Ala351Pro
NM_001309840.2:c.919G>C	NP_001296769.1:p.Ala307Pro
NM_001309861.2:c.919G>C	NP_001296790.1:p.Ala307Pro
NM_016592.4:c.*1002G>C	NP_057676.1:n.*1002G>C
NM_080426.4:c.1054G>C	NP_536351.1:p.Ala352Pro
NM_000516.7:c.1096G>C MANE Select	NP_000507.1:p.Ala366Pro
NM_001077488.5:c.1099G>C	NP_001070956.1:p.Ala367Pro
NM_001077490.3:c.*957G>C	NP_001070958.1:n.*957G>C
NM_016592.5:c.*1002G>C MANE Plus Clinical	NP_057676.1:n.*1002G>C
NM_080425.4:c.3025G>C MANE Plus Clinical	NP_536350.2:p.Ala1009Pro