Canonical Allele Identifier: CA511087417

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484827T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909772T>C , CM000682.2:g.58909772T>C	GRCh38
NC_000020.10:g.57484827T>C , CM000682.1:g.57484827T>C	GRCh37
NC_000020.9:g.56918222T>C	NCBI36
NG_016194.1:g.75033T>C
NG_016194.2:g.75033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2691T>C	ENSP00000265621.6:p.Ala897=
ENST00000419558.7:c.*665T>C	ENSP00000416234.2:n.*665T>C
ENST00000453292.7:c.1406T>C	ENSP00000392000.2:n.1406T>C
ENST00000462499.6:c.588T>C	ENSP00000499758.2:p.Ala196=
ENST00000464624.7:c.*649T>C	ENSP00000499607.2:n.*649T>C
ENST00000464788.6:c.630T>C	ENSP00000499239.2:p.Ala210=
ENST00000467227.6:c.588T>C	ENSP00000499681.2:p.Ala196=
ENST00000467321.6:c.630T>C	ENSP00000499523.2:p.Ala210=
ENST00000468895.6:c.807T>C	ENSP00000499551.2:p.Ala269=
ENST00000469431.6:c.630T>C	ENSP00000499654.2:p.Ala210=
ENST00000470512.6:c.633T>C	ENSP00000499552.2:p.Ala211=
ENST00000472183.6:c.630T>C	ENSP00000499673.2:p.Ala210=
ENST00000475610.2:n.1313T>C
ENST00000476935.6:c.585T>C	ENSP00000499409.2:p.Ala195=
ENST00000478585.6:c.588T>C	ENSP00000499762.2:p.Ala196=
ENST00000480232.6:c.633T>C	ENSP00000499545.2:p.Ala211=
ENST00000481039.6:c.588T>C	ENSP00000499767.2:p.Ala196=
ENST00000482112.6:c.585T>C	ENSP00000499794.2:p.Ala195=
ENST00000485673.6:c.588T>C	ENSP00000499334.2:p.Ala196=
ENST00000488546.6:c.588T>C	ENSP00000499332.2:p.Ala196=
ENST00000488652.6:c.630T>C	ENSP00000499435.2:p.Ala210=
ENST00000492907.6:c.588T>C	ENSP00000499443.2:p.Ala196=
ENST00000603546.2:c.630T>C	ENSP00000474802.2:p.Ala210=
ENST00000604005.6:c.630T>C	ENSP00000474219.2:p.Ala210=
ENST00000663479.2:c.633T>C	ENSP00000499353.2:p.Ala211=
ENST00000667293.2:c.630T>C	ENSP00000499293.2:p.Ala210=
ENST00000676826.2:c.2739T>C	ENSP00000504675.2:p.Ala913=
ENST00000682092.1:n.5091T>C
ENST00000682134.1:n.2733T>C
ENST00000682411.1:n.2902T>C
ENST00000682590.1:n.4994T>C
ENST00000682680.1:n.5008T>C
ENST00000682803.1:c.480T>C	ENSP00000507069.1:p.Ala160=
ENST00000682829.1:n.3135T>C
ENST00000682917.1:n.1335T>C
ENST00000682986.1:n.5224T>C
ENST00000683015.1:c.1577T>C	ENSP00000506815.1:n.1577T>C
ENST00000683632.1:n.5337T>C
ENST00000683932.1:n.6583T>C
ENST00000684284.1:n.3185T>C
ENST00000684466.1:n.1446T>C
ENST00000684644.1:n.5127T>C
ENST00000684761.1:n.1300T>C
ENST00000306090.12:c.711T>C	ENSP00000304472.12:p.Ala237=
ENST00000354359.12:c.810T>C	ENSP00000346328.7:p.Ala270=
ENST00000371085.8:c.807T>C MANE Select	ENSP00000360126.3:p.Ala269=
ENST00000371100.9:c.2736T>C MANE Plus Clinical	ENSP00000360141.3:p.Ala912=
ENST00000656419.1:c.336T>C	ENSP00000499614.1:p.Ala112=
ENST00000657090.1:c.630T>C	ENSP00000499380.1:p.Ala210=
ENST00000667293.1:c.678T>C	ENSP00000499293.1:p.Ala226=
ENST00000265620.11:c.762T>C	ENSP00000265620.7:p.Ala254=
ENST00000306090.11:c.99T>C	ENSP00000304472.11:p.Ala33=
ENST00000313949.11:c.*710T>C	ENSP00000323571.7:n.*710T>C
ENST00000354359.11:c.810T>C	ENSP00000346328.7:p.Ala270=
ENST00000371075.7:c.*713T>C MANE Plus Clinical	ENSP00000360115.3:n.*713T>C
ENST00000371085.7:c.807T>C	ENSP00000360126.3:p.Ala269=
ENST00000371095.7:c.765T>C	ENSP00000360136.3:p.Ala255=
ENST00000371100.8:c.2736T>C	ENSP00000360141.3:p.Ala912=
ENST00000371102.8:c.2694T>C	ENSP00000360143.4:p.Ala898=
ENST00000464624.6:n.3023T>C
ENST00000470512.5:n.881T>C
ENST00000476196.5:n.1100T>C
ENST00000476935.5:n.796T>C
ENST00000477931.5:n.922T>C
ENST00000480232.5:n.826T>C
ENST00000480975.5:n.806T>C
ENST00000481039.5:n.724T>C
ENST00000487862.5:n.1041T>C
ENST00000488546.5:n.666T>C
ENST00000488652.5:n.897T>C
ENST00000492907.5:n.758T>C
ENST00000493958.5:n.530T>C
ENST00000494081.5:n.362T>C
ENST00000496934.5:n.2096T>C
NM_000516.4:c.807T>C	NP_000507.1:p.Ala269=
NM_000516.5:c.807T>C	NP_000507.1:p.Ala269=
NM_001077488.2:c.810T>C	NP_001070956.1:p.Ala270=
NM_001077488.3:c.810T>C	NP_001070956.1:p.Ala270=
NM_001077489.2:c.762T>C	NP_001070957.1:p.Ala254=
NM_001077489.3:c.762T>C	NP_001070957.1:p.Ala254=
NM_001077490.1:c.*668T>C	NP_001070958.1:n.*668T>C
NM_001077490.2:c.*668T>C	NP_001070958.1:n.*668T>C
NM_001309840.1:c.630T>C	NP_001296769.1:p.Ala210=
NM_001309861.1:c.630T>C	NP_001296790.1:p.Ala210=
NM_016592.2:c.*713T>C	NP_057676.1:n.*713T>C
NM_016592.3:c.*713T>C	NP_057676.1:n.*713T>C
NM_080425.2:c.2736T>C	NP_536350.2:p.Ala912=
NM_080425.3:c.2736T>C	NP_536350.2:p.Ala912=
NM_080426.2:c.765T>C	NP_536351.1:p.Ala255=
NM_080426.3:c.765T>C	NP_536351.1:p.Ala255=
NR_003259.1:c.-4294966399T>C
XM_017027812.2:c.2739T>C	XP_016883301.1:p.Ala913=
XM_017027813.2:c.2694T>C	XP_016883302.1:p.Ala898=
XM_017027814.2:c.2691T>C	XP_016883303.1:p.Ala897=
XM_017027815.1:c.666T>C	XP_016883304.1:p.Ala222=
XM_017027816.1:c.585T>C	XP_016883305.1:p.Ala195=
XM_017027817.1:c.585T>C	XP_016883306.1:p.Ala195=
XM_017027818.2:c.585T>C	XP_016883307.1:p.Ala195=
XM_017027819.1:c.585T>C	XP_016883308.1:p.Ala195=
XM_017027820.1:c.585T>C	XP_016883309.1:p.Ala195=
XM_024451872.1:c.711T>C	XP_024307640.1:p.Ala237=
XM_024451873.1:c.630T>C	XP_024307641.1:p.Ala210=
XM_024451874.1:c.630T>C	XP_024307642.1:p.Ala210=
XM_024451875.1:c.630T>C	XP_024307643.1:p.Ala210=
XR_002958471.1:n.1514T>C
NM_000516.6:c.807T>C	NP_000507.1:p.Ala269=
NM_001077488.4:c.810T>C	NP_001070956.1:p.Ala270=
NM_001077489.4:c.762T>C	NP_001070957.1:p.Ala254=
NM_001309840.2:c.630T>C	NP_001296769.1:p.Ala210=
NM_001309861.2:c.630T>C	NP_001296790.1:p.Ala210=
NM_016592.4:c.*713T>C	NP_057676.1:n.*713T>C
NM_080426.4:c.765T>C	NP_536351.1:p.Ala255=
NM_000516.7:c.807T>C MANE Select	NP_000507.1:p.Ala269=
NM_001077488.5:c.810T>C	NP_001070956.1:p.Ala270=
NM_001077490.3:c.*668T>C	NP_001070958.1:n.*668T>C
NM_016592.5:c.*713T>C MANE Plus Clinical	NP_057676.1:n.*713T>C
NM_080425.4:c.2736T>C MANE Plus Clinical	NP_536350.2:p.Ala912=