Canonical Allele Identifier: CA409452802

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484849T>G (hg19) ; chr20:g.58909794T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909794T>G , CM000682.2:g.58909794T>G	GRCh38
NC_000020.10:g.57484849T>G , CM000682.1:g.57484849T>G	GRCh37
NC_000020.9:g.56918244T>G	NCBI36
NG_016194.1:g.75055T>G
NG_016194.2:g.75055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2713T>G	ENSP00000265621.6:p.Trp905Gly
ENST00000419558.7:c.*687T>G	ENSP00000416234.2:n.*687T>G
ENST00000453292.7:c.1428T>G	ENSP00000392000.2:n.1428T>G
ENST00000462499.6:c.610T>G	ENSP00000499758.2:p.Trp204Gly
ENST00000464624.7:c.*671T>G	ENSP00000499607.2:n.*671T>G
ENST00000464788.6:c.652T>G	ENSP00000499239.2:p.Trp218Gly
ENST00000467227.6:c.610T>G	ENSP00000499681.2:p.Trp204Gly
ENST00000467321.6:c.652T>G	ENSP00000499523.2:p.Trp218Gly
ENST00000468895.6:c.829T>G	ENSP00000499551.2:p.Trp277Gly
ENST00000469431.6:c.652T>G	ENSP00000499654.2:p.Trp218Gly
ENST00000470512.6:c.655T>G	ENSP00000499552.2:p.Trp219Gly
ENST00000472183.6:c.652T>G	ENSP00000499673.2:p.Trp218Gly
ENST00000475610.2:n.1335T>G
ENST00000476935.6:c.607T>G	ENSP00000499409.2:p.Trp203Gly
ENST00000478585.6:c.610T>G	ENSP00000499762.2:p.Trp204Gly
ENST00000480232.6:c.655T>G	ENSP00000499545.2:p.Trp219Gly
ENST00000481039.6:c.610T>G	ENSP00000499767.2:p.Trp204Gly
ENST00000482112.6:c.607T>G	ENSP00000499794.2:p.Trp203Gly
ENST00000485673.6:c.610T>G	ENSP00000499334.2:p.Trp204Gly
ENST00000488546.6:c.610T>G	ENSP00000499332.2:p.Trp204Gly
ENST00000488652.6:c.652T>G	ENSP00000499435.2:p.Trp218Gly
ENST00000492907.6:c.610T>G	ENSP00000499443.2:p.Trp204Gly
ENST00000603546.2:c.652T>G	ENSP00000474802.2:p.Trp218Gly
ENST00000604005.6:c.652T>G	ENSP00000474219.2:p.Trp218Gly
ENST00000663479.2:c.655T>G	ENSP00000499353.2:p.Trp219Gly
ENST00000667293.2:c.652T>G	ENSP00000499293.2:p.Trp218Gly
ENST00000676826.2:c.2761T>G	ENSP00000504675.2:p.Trp921Gly
ENST00000682092.1:n.5113T>G
ENST00000682134.1:n.2755T>G
ENST00000682411.1:n.2924T>G
ENST00000682590.1:n.5016T>G
ENST00000682680.1:n.5030T>G
ENST00000682803.1:c.502T>G	ENSP00000507069.1:p.Trp168Gly
ENST00000682829.1:n.3157T>G
ENST00000682917.1:n.1357T>G
ENST00000682986.1:n.5246T>G
ENST00000683015.1:c.1599T>G	ENSP00000506815.1:n.1599T>G
ENST00000683632.1:n.5359T>G
ENST00000683932.1:n.6605T>G
ENST00000684284.1:n.3207T>G
ENST00000684466.1:n.1468T>G
ENST00000684644.1:n.5149T>G
ENST00000684761.1:n.1322T>G
ENST00000306090.12:c.733T>G	ENSP00000304472.12:p.Trp245Gly
ENST00000354359.12:c.832T>G	ENSP00000346328.7:p.Trp278Gly
ENST00000371085.8:c.829T>G MANE Select	ENSP00000360126.3:p.Trp277Gly
ENST00000371100.9:c.2758T>G MANE Plus Clinical	ENSP00000360141.3:p.Trp920Gly
ENST00000656419.1:c.358T>G	ENSP00000499614.1:p.Trp120Gly
ENST00000657090.1:c.652T>G	ENSP00000499380.1:p.Trp218Gly
ENST00000667293.1:c.700T>G	ENSP00000499293.1:p.Trp234Gly
ENST00000265620.11:c.784T>G	ENSP00000265620.7:p.Trp262Gly
ENST00000306090.11:c.121T>G	ENSP00000304472.11:p.Trp41Gly
ENST00000313949.11:c.*732T>G	ENSP00000323571.7:n.*732T>G
ENST00000354359.11:c.832T>G	ENSP00000346328.7:p.Trp278Gly
ENST00000371075.7:c.*735T>G MANE Plus Clinical	ENSP00000360115.3:n.*735T>G
ENST00000371085.7:c.829T>G	ENSP00000360126.3:p.Trp277Gly
ENST00000371095.7:c.787T>G	ENSP00000360136.3:p.Trp263Gly
ENST00000371100.8:c.2758T>G	ENSP00000360141.3:p.Trp920Gly
ENST00000371102.8:c.2716T>G	ENSP00000360143.4:p.Trp906Gly
ENST00000464624.6:n.3045T>G
ENST00000470512.5:n.903T>G
ENST00000476196.5:n.1122T>G
ENST00000476935.5:n.818T>G
ENST00000477931.5:n.944T>G
ENST00000480232.5:n.848T>G
ENST00000480975.5:n.828T>G
ENST00000481039.5:n.746T>G
ENST00000487862.5:n.1063T>G
ENST00000488546.5:n.688T>G
ENST00000488652.5:n.919T>G
ENST00000492907.5:n.780T>G
ENST00000494081.5:n.384T>G
ENST00000496934.5:n.2118T>G
NM_000516.4:c.829T>G	NP_000507.1:p.Trp277Gly
NM_000516.5:c.829T>G	NP_000507.1:p.Trp277Gly
NM_001077488.2:c.832T>G	NP_001070956.1:p.Trp278Gly
NM_001077488.3:c.832T>G	NP_001070956.1:p.Trp278Gly
NM_001077489.2:c.784T>G	NP_001070957.1:p.Trp262Gly
NM_001077489.3:c.784T>G	NP_001070957.1:p.Trp262Gly
NM_001077490.1:c.*690T>G	NP_001070958.1:n.*690T>G
NM_001077490.2:c.*690T>G	NP_001070958.1:n.*690T>G
NM_001309840.1:c.652T>G	NP_001296769.1:p.Trp218Gly
NM_001309861.1:c.652T>G	NP_001296790.1:p.Trp218Gly
NM_016592.2:c.*735T>G	NP_057676.1:n.*735T>G
NM_016592.3:c.*735T>G	NP_057676.1:n.*735T>G
NM_080425.2:c.2758T>G	NP_536350.2:p.Trp920Gly
NM_080425.3:c.2758T>G	NP_536350.2:p.Trp920Gly
NM_080426.2:c.787T>G	NP_536351.1:p.Trp263Gly
NM_080426.3:c.787T>G	NP_536351.1:p.Trp263Gly
NR_003259.1:c.-4294966377T>G
XM_017027812.2:c.2761T>G	XP_016883301.1:p.Trp921Gly
XM_017027813.2:c.2716T>G	XP_016883302.1:p.Trp906Gly
XM_017027814.2:c.2713T>G	XP_016883303.1:p.Trp905Gly
XM_017027815.1:c.688T>G	XP_016883304.1:p.Trp230Gly
XM_017027816.1:c.607T>G	XP_016883305.1:p.Trp203Gly
XM_017027817.1:c.607T>G	XP_016883306.1:p.Trp203Gly
XM_017027818.2:c.607T>G	XP_016883307.1:p.Trp203Gly
XM_017027819.1:c.607T>G	XP_016883308.1:p.Trp203Gly
XM_017027820.1:c.607T>G	XP_016883309.1:p.Trp203Gly
XM_024451872.1:c.733T>G	XP_024307640.1:p.Trp245Gly
XM_024451873.1:c.652T>G	XP_024307641.1:p.Trp218Gly
XM_024451874.1:c.652T>G	XP_024307642.1:p.Trp218Gly
XM_024451875.1:c.652T>G	XP_024307643.1:p.Trp218Gly
XR_002958471.1:n.1536T>G
NM_000516.6:c.829T>G	NP_000507.1:p.Trp277Gly
NM_001077488.4:c.832T>G	NP_001070956.1:p.Trp278Gly
NM_001077489.4:c.784T>G	NP_001070957.1:p.Trp262Gly
NM_001309840.2:c.652T>G	NP_001296769.1:p.Trp218Gly
NM_001309861.2:c.652T>G	NP_001296790.1:p.Trp218Gly
NM_016592.4:c.*735T>G	NP_057676.1:n.*735T>G
NM_080426.4:c.787T>G	NP_536351.1:p.Trp263Gly
NM_000516.7:c.829T>G MANE Select	NP_000507.1:p.Trp277Gly
NM_001077488.5:c.832T>G	NP_001070956.1:p.Trp278Gly
NM_001077490.3:c.*690T>G	NP_001070958.1:n.*690T>G
NM_016592.5:c.*735T>G MANE Plus Clinical	NP_057676.1:n.*735T>G
NM_080425.4:c.2758T>G MANE Plus Clinical	NP_536350.2:p.Trp920Gly