Canonical Allele Identifier: CA409452693

Gene: GNAS

Linked Data

• MyVariant Identifiers: chr20:g.57484821G>C (hg19) ; chr20:g.58909766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58909766G>C , CM000682.2:g.58909766G>C	GRCh38
NC_000020.10:g.57484821G>C , CM000682.1:g.57484821G>C	GRCh37
NC_000020.9:g.56918216G>C	NCBI36
NG_016194.1:g.75027G>C
NG_016194.2:g.75027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349036.9:c.2685G>C	ENSP00000265621.6:p.Gln895His
ENST00000419558.7:c.*659G>C	ENSP00000416234.2:n.*659G>C
ENST00000453292.7:c.1400G>C	ENSP00000392000.2:n.1400G>C
ENST00000462499.6:c.582G>C	ENSP00000499758.2:p.Gln194His
ENST00000464624.7:c.*643G>C	ENSP00000499607.2:n.*643G>C
ENST00000464788.6:c.624G>C	ENSP00000499239.2:p.Gln208His
ENST00000467227.6:c.582G>C	ENSP00000499681.2:p.Gln194His
ENST00000467321.6:c.624G>C	ENSP00000499523.2:p.Gln208His
ENST00000468895.6:c.801G>C	ENSP00000499551.2:p.Gln267His
ENST00000469431.6:c.624G>C	ENSP00000499654.2:p.Gln208His
ENST00000470512.6:c.627G>C	ENSP00000499552.2:p.Gln209His
ENST00000472183.6:c.624G>C	ENSP00000499673.2:p.Gln208His
ENST00000475610.2:n.1307G>C
ENST00000476935.6:c.579G>C	ENSP00000499409.2:p.Gln193His
ENST00000478585.6:c.582G>C	ENSP00000499762.2:p.Gln194His
ENST00000480232.6:c.627G>C	ENSP00000499545.2:p.Gln209His
ENST00000481039.6:c.582G>C	ENSP00000499767.2:p.Gln194His
ENST00000482112.6:c.579G>C	ENSP00000499794.2:p.Gln193His
ENST00000485673.6:c.582G>C	ENSP00000499334.2:p.Gln194His
ENST00000488546.6:c.582G>C	ENSP00000499332.2:p.Gln194His
ENST00000488652.6:c.624G>C	ENSP00000499435.2:p.Gln208His
ENST00000492907.6:c.582G>C	ENSP00000499443.2:p.Gln194His
ENST00000603546.2:c.624G>C	ENSP00000474802.2:p.Gln208His
ENST00000604005.6:c.624G>C	ENSP00000474219.2:p.Gln208His
ENST00000663479.2:c.627G>C	ENSP00000499353.2:p.Gln209His
ENST00000667293.2:c.624G>C	ENSP00000499293.2:p.Gln208His
ENST00000676826.2:c.2733G>C	ENSP00000504675.2:p.Gln911His
ENST00000682092.1:n.5085G>C
ENST00000682134.1:n.2727G>C
ENST00000682411.1:n.2896G>C
ENST00000682590.1:n.4988G>C
ENST00000682680.1:n.5002G>C
ENST00000682803.1:c.474G>C	ENSP00000507069.1:p.Gln158His
ENST00000682829.1:n.3129G>C
ENST00000682917.1:n.1329G>C
ENST00000682986.1:n.5218G>C
ENST00000683015.1:c.1571G>C	ENSP00000506815.1:n.1571G>C
ENST00000683632.1:n.5331G>C
ENST00000683932.1:n.6577G>C
ENST00000684284.1:n.3179G>C
ENST00000684466.1:n.1440G>C
ENST00000684644.1:n.5121G>C
ENST00000684761.1:n.1294G>C
ENST00000306090.12:c.705G>C	ENSP00000304472.12:p.Gln235His
ENST00000354359.12:c.804G>C	ENSP00000346328.7:p.Gln268His
ENST00000371085.8:c.801G>C MANE Select	ENSP00000360126.3:p.Gln267His
ENST00000371100.9:c.2730G>C MANE Plus Clinical	ENSP00000360141.3:p.Gln910His
ENST00000656419.1:c.330G>C	ENSP00000499614.1:p.Gln110His
ENST00000657090.1:c.624G>C	ENSP00000499380.1:p.Gln208His
ENST00000667293.1:c.672G>C	ENSP00000499293.1:p.Gln224His
ENST00000265620.11:c.756G>C	ENSP00000265620.7:p.Gln252His
ENST00000306090.11:c.94-1G>C	ENSP00000304472.11:n.94-1G>C
ENST00000313949.11:c.*704G>C	ENSP00000323571.7:n.*704G>C
ENST00000354359.11:c.804G>C	ENSP00000346328.7:p.Gln268His
ENST00000371075.7:c.*707G>C MANE Plus Clinical	ENSP00000360115.3:n.*707G>C
ENST00000371085.7:c.801G>C	ENSP00000360126.3:p.Gln267His
ENST00000371095.7:c.759G>C	ENSP00000360136.3:p.Gln253His
ENST00000371100.8:c.2730G>C	ENSP00000360141.3:p.Gln910His
ENST00000371102.8:c.2688G>C	ENSP00000360143.4:p.Gln896His
ENST00000464624.6:n.3017G>C
ENST00000470512.5:n.875G>C
ENST00000476196.5:n.1094G>C
ENST00000476935.5:n.790G>C
ENST00000477931.5:n.916G>C
ENST00000480232.5:n.820G>C
ENST00000480975.5:n.800G>C
ENST00000481039.5:n.718G>C
ENST00000487862.5:n.1035G>C
ENST00000488546.5:n.660G>C
ENST00000488652.5:n.891G>C
ENST00000492907.5:n.752G>C
ENST00000493958.5:n.524G>C
ENST00000494081.5:n.356G>C
ENST00000496934.5:n.2090G>C
NM_000516.4:c.801G>C	NP_000507.1:p.Gln267His
NM_000516.5:c.801G>C	NP_000507.1:p.Gln267His
NM_001077488.2:c.804G>C	NP_001070956.1:p.Gln268His
NM_001077488.3:c.804G>C	NP_001070956.1:p.Gln268His
NM_001077489.2:c.756G>C	NP_001070957.1:p.Gln252His
NM_001077489.3:c.756G>C	NP_001070957.1:p.Gln252His
NM_001077490.1:c.*662G>C	NP_001070958.1:n.*662G>C
NM_001077490.2:c.*662G>C	NP_001070958.1:n.*662G>C
NM_001309840.1:c.624G>C	NP_001296769.1:p.Gln208His
NM_001309861.1:c.624G>C	NP_001296790.1:p.Gln208His
NM_016592.2:c.*707G>C	NP_057676.1:n.*707G>C
NM_016592.3:c.*707G>C	NP_057676.1:n.*707G>C
NM_080425.2:c.2730G>C	NP_536350.2:p.Gln910His
NM_080425.3:c.2730G>C	NP_536350.2:p.Gln910His
NM_080426.2:c.759G>C	NP_536351.1:p.Gln253His
NM_080426.3:c.759G>C	NP_536351.1:p.Gln253His
NR_003259.1:c.-4294966405G>C
XM_017027812.2:c.2733G>C	XP_016883301.1:p.Gln911His
XM_017027813.2:c.2688G>C	XP_016883302.1:p.Gln896His
XM_017027814.2:c.2685G>C	XP_016883303.1:p.Gln895His
XM_017027815.1:c.660G>C	XP_016883304.1:p.Gln220His
XM_017027816.1:c.579G>C	XP_016883305.1:p.Gln193His
XM_017027817.1:c.579G>C	XP_016883306.1:p.Gln193His
XM_017027818.2:c.579G>C	XP_016883307.1:p.Gln193His
XM_017027819.1:c.579G>C	XP_016883308.1:p.Gln193His
XM_017027820.1:c.579G>C	XP_016883309.1:p.Gln193His
XM_024451872.1:c.705G>C	XP_024307640.1:p.Gln235His
XM_024451873.1:c.624G>C	XP_024307641.1:p.Gln208His
XM_024451874.1:c.624G>C	XP_024307642.1:p.Gln208His
XM_024451875.1:c.624G>C	XP_024307643.1:p.Gln208His
XR_002958471.1:n.1508G>C
NM_000516.6:c.801G>C	NP_000507.1:p.Gln267His
NM_001077488.4:c.804G>C	NP_001070956.1:p.Gln268His
NM_001077489.4:c.756G>C	NP_001070957.1:p.Gln252His
NM_001309840.2:c.624G>C	NP_001296769.1:p.Gln208His
NM_001309861.2:c.624G>C	NP_001296790.1:p.Gln208His
NM_016592.4:c.*707G>C	NP_057676.1:n.*707G>C
NM_080426.4:c.759G>C	NP_536351.1:p.Gln253His
NM_000516.7:c.801G>C MANE Select	NP_000507.1:p.Gln267His
NM_001077488.5:c.804G>C	NP_001070956.1:p.Gln268His
NM_001077490.3:c.*662G>C	NP_001070958.1:n.*662G>C
NM_016592.5:c.*707G>C MANE Plus Clinical	NP_057676.1:n.*707G>C
NM_080425.4:c.2730G>C MANE Plus Clinical	NP_536350.2:p.Gln910His