Canonical Allele Identifier: CA316340712

Gene: GNAS

Linked Data

• dbSNP Id: rs45476101
• MyVariant Identifiers: chr20:g.57484850G>A (hg19) ; chr20:g.58909795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909795G>A , CM000682.2:g.58909795G>A	GRCh38
NC_000020.10:g.57484850G>A , CM000682.1:g.57484850G>A	GRCh37
NC_000020.9:g.56918245G>A	NCBI36
NG_016194.1:g.75056G>A
NG_016194.2:g.75056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2714G>A	ENSP00000265621.6:p.Trp905Ter
ENST00000419558.7:c.*688G>A	ENSP00000416234.2:n.*688G>A
ENST00000453292.7:c.1429G>A	ENSP00000392000.2:n.1429G>A
ENST00000462499.6:c.611G>A	ENSP00000499758.2:p.Trp204Ter
ENST00000464624.7:c.*672G>A	ENSP00000499607.2:n.*672G>A
ENST00000464788.6:c.653G>A	ENSP00000499239.2:p.Trp218Ter
ENST00000467227.6:c.611G>A	ENSP00000499681.2:p.Trp204Ter
ENST00000467321.6:c.653G>A	ENSP00000499523.2:p.Trp218Ter
ENST00000468895.6:c.830G>A	ENSP00000499551.2:p.Trp277Ter
ENST00000469431.6:c.653G>A	ENSP00000499654.2:p.Trp218Ter
ENST00000470512.6:c.656G>A	ENSP00000499552.2:p.Trp219Ter
ENST00000472183.6:c.653G>A	ENSP00000499673.2:p.Trp218Ter
ENST00000475610.2:n.1336G>A
ENST00000476935.6:c.608G>A	ENSP00000499409.2:p.Trp203Ter
ENST00000478585.6:c.611G>A	ENSP00000499762.2:p.Trp204Ter
ENST00000480232.6:c.656G>A	ENSP00000499545.2:p.Trp219Ter
ENST00000481039.6:c.611G>A	ENSP00000499767.2:p.Trp204Ter
ENST00000482112.6:c.608G>A	ENSP00000499794.2:p.Trp203Ter
ENST00000485673.6:c.611G>A	ENSP00000499334.2:p.Trp204Ter
ENST00000488546.6:c.611G>A	ENSP00000499332.2:p.Trp204Ter
ENST00000488652.6:c.653G>A	ENSP00000499435.2:p.Trp218Ter
ENST00000492907.6:c.611G>A	ENSP00000499443.2:p.Trp204Ter
ENST00000603546.2:c.653G>A	ENSP00000474802.2:p.Trp218Ter
ENST00000604005.6:c.653G>A	ENSP00000474219.2:p.Trp218Ter
ENST00000663479.2:c.656G>A	ENSP00000499353.2:p.Trp219Ter
ENST00000667293.2:c.653G>A	ENSP00000499293.2:p.Trp218Ter
ENST00000676826.2:c.2762G>A	ENSP00000504675.2:p.Trp921Ter
ENST00000682092.1:n.5114G>A
ENST00000682134.1:n.2756G>A
ENST00000682411.1:n.2925G>A
ENST00000682590.1:n.5017G>A
ENST00000682680.1:n.5031G>A
ENST00000682803.1:c.503G>A	ENSP00000507069.1:p.Trp168Ter
ENST00000682829.1:n.3158G>A
ENST00000682917.1:n.1358G>A
ENST00000682986.1:n.5247G>A
ENST00000683015.1:c.1600G>A	ENSP00000506815.1:n.1600G>A
ENST00000683632.1:n.5360G>A
ENST00000683932.1:n.6606G>A
ENST00000684284.1:n.3208G>A
ENST00000684466.1:n.1469G>A
ENST00000684644.1:n.5150G>A
ENST00000684761.1:n.1323G>A
ENST00000306090.12:c.734G>A	ENSP00000304472.12:p.Trp245Ter
ENST00000354359.12:c.833G>A	ENSP00000346328.7:p.Trp278Ter
ENST00000371085.8:c.830G>A MANE Select	ENSP00000360126.3:p.Trp277Ter
ENST00000371100.9:c.2759G>A MANE Plus Clinical	ENSP00000360141.3:p.Trp920Ter
ENST00000656419.1:c.359G>A	ENSP00000499614.1:p.Trp120Ter
ENST00000657090.1:c.653G>A	ENSP00000499380.1:p.Trp218Ter
ENST00000667293.1:c.701G>A	ENSP00000499293.1:p.Trp234Ter
ENST00000265620.11:c.785G>A	ENSP00000265620.7:p.Trp262Ter
ENST00000306090.11:c.122G>A	ENSP00000304472.11:p.Trp41Ter
ENST00000313949.11:c.*733G>A	ENSP00000323571.7:n.*733G>A
ENST00000354359.11:c.833G>A	ENSP00000346328.7:p.Trp278Ter
ENST00000371075.7:c.*736G>A MANE Plus Clinical	ENSP00000360115.3:n.*736G>A
ENST00000371085.7:c.830G>A	ENSP00000360126.3:p.Trp277Ter
ENST00000371095.7:c.788G>A	ENSP00000360136.3:p.Trp263Ter
ENST00000371100.8:c.2759G>A	ENSP00000360141.3:p.Trp920Ter
ENST00000371102.8:c.2717G>A	ENSP00000360143.4:p.Trp906Ter
ENST00000464624.6:n.3046G>A
ENST00000470512.5:n.904G>A
ENST00000476196.5:n.1123G>A
ENST00000476935.5:n.819G>A
ENST00000477931.5:n.945G>A
ENST00000480232.5:n.849G>A
ENST00000480975.5:n.829G>A
ENST00000481039.5:n.747G>A
ENST00000487862.5:n.1064G>A
ENST00000488546.5:n.689G>A
ENST00000488652.5:n.920G>A
ENST00000492907.5:n.781G>A
ENST00000494081.5:n.385G>A
ENST00000496934.5:n.2119G>A
NM_000516.4:c.830G>A	NP_000507.1:p.Trp277Ter
NM_000516.5:c.830G>A	NP_000507.1:p.Trp277Ter
NM_001077488.2:c.833G>A	NP_001070956.1:p.Trp278Ter
NM_001077488.3:c.833G>A	NP_001070956.1:p.Trp278Ter
NM_001077489.2:c.785G>A	NP_001070957.1:p.Trp262Ter
NM_001077489.3:c.785G>A	NP_001070957.1:p.Trp262Ter
NM_001077490.1:c.*691G>A	NP_001070958.1:n.*691G>A
NM_001077490.2:c.*691G>A	NP_001070958.1:n.*691G>A
NM_001309840.1:c.653G>A	NP_001296769.1:p.Trp218Ter
NM_001309861.1:c.653G>A	NP_001296790.1:p.Trp218Ter
NM_016592.2:c.*736G>A	NP_057676.1:n.*736G>A
NM_016592.3:c.*736G>A	NP_057676.1:n.*736G>A
NM_080425.2:c.2759G>A	NP_536350.2:p.Trp920Ter
NM_080425.3:c.2759G>A	NP_536350.2:p.Trp920Ter
NM_080426.2:c.788G>A	NP_536351.1:p.Trp263Ter
NM_080426.3:c.788G>A	NP_536351.1:p.Trp263Ter
NR_003259.1:c.-4294966376G>A
XM_017027812.2:c.2762G>A	XP_016883301.1:p.Trp921Ter
XM_017027813.2:c.2717G>A	XP_016883302.1:p.Trp906Ter
XM_017027814.2:c.2714G>A	XP_016883303.1:p.Trp905Ter
XM_017027815.1:c.689G>A	XP_016883304.1:p.Trp230Ter
XM_017027816.1:c.608G>A	XP_016883305.1:p.Trp203Ter
XM_017027817.1:c.608G>A	XP_016883306.1:p.Trp203Ter
XM_017027818.2:c.608G>A	XP_016883307.1:p.Trp203Ter
XM_017027819.1:c.608G>A	XP_016883308.1:p.Trp203Ter
XM_017027820.1:c.608G>A	XP_016883309.1:p.Trp203Ter
XM_024451872.1:c.734G>A	XP_024307640.1:p.Trp245Ter
XM_024451873.1:c.653G>A	XP_024307641.1:p.Trp218Ter
XM_024451874.1:c.653G>A	XP_024307642.1:p.Trp218Ter
XM_024451875.1:c.653G>A	XP_024307643.1:p.Trp218Ter
XR_002958471.1:n.1537G>A
NM_000516.6:c.830G>A	NP_000507.1:p.Trp277Ter
NM_001077488.4:c.833G>A	NP_001070956.1:p.Trp278Ter
NM_001077489.4:c.785G>A	NP_001070957.1:p.Trp262Ter
NM_001309840.2:c.653G>A	NP_001296769.1:p.Trp218Ter
NM_001309861.2:c.653G>A	NP_001296790.1:p.Trp218Ter
NM_016592.4:c.*736G>A	NP_057676.1:n.*736G>A
NM_080426.4:c.788G>A	NP_536351.1:p.Trp263Ter
NM_000516.7:c.830G>A MANE Select	NP_000507.1:p.Trp277Ter
NM_001077488.5:c.833G>A	NP_001070956.1:p.Trp278Ter
NM_001077490.3:c.*691G>A	NP_001070958.1:n.*691G>A
NM_016592.5:c.*736G>A MANE Plus Clinical	NP_057676.1:n.*736G>A
NM_080425.4:c.2759G>A MANE Plus Clinical	NP_536350.2:p.Trp920Ter