Canonical Allele Identifier: CA316333240
Gene: GNAS HGNC NCBI

Linked Data

dbSNP Id: rs62205366
MyVariant Identifiers: chr20:g.57478193T>C (hg19) chr20:g.58903138T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58903138T>C , CM000682.2:g.58903138T>C GRCh38
NC_000020.10:g.57478193T>C , CM000682.1:g.57478193T>C GRCh37
NC_000020.9:g.56911588T>C NCBI36
NG_016194.1:g.68399T>C
NG_016194.2:g.68399T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000349036.9:c.2142-393T>C ENSP00000265621.6:n.2142-393T>C
ENST00000419558.7:c.*116-393T>C ENSP00000416234.2:n.*116-393T>C
ENST00000453292.7:c.854-390T>C ENSP00000392000.2:n.854-390T>C
ENST00000462499.6:c.36-390T>C ENSP00000499758.2:n.36-390T>C
ENST00000464624.7:c.*100-393T>C ENSP00000499607.2:n.*100-393T>C
ENST00000464788.6:c.81-393T>C ENSP00000499239.2:n.81-393T>C
ENST00000467227.6:c.36-390T>C ENSP00000499681.2:n.36-390T>C
ENST00000467321.6:c.81-393T>C ENSP00000499523.2:n.81-393T>C
ENST00000468895.6:c.258-393T>C ENSP00000499551.2:n.258-393T>C
ENST00000469431.6:c.81-393T>C ENSP00000499654.2:n.81-393T>C
ENST00000470512.6:c.81-390T>C ENSP00000499552.2:n.81-390T>C
ENST00000472183.6:c.81-393T>C ENSP00000499673.2:n.81-393T>C
ENST00000475610.2:n.371T>C
ENST00000476935.6:c.36-393T>C ENSP00000499409.2:n.36-393T>C
ENST00000478585.6:c.36-390T>C ENSP00000499762.2:n.36-390T>C
ENST00000480232.6:c.81-390T>C ENSP00000499545.2:n.81-390T>C
ENST00000481039.6:c.36-390T>C ENSP00000499767.2:n.36-390T>C
ENST00000482112.6:c.36-393T>C ENSP00000499794.2:n.36-393T>C
ENST00000485673.6:c.36-390T>C ENSP00000499334.2:n.36-390T>C
ENST00000488546.6:c.36-390T>C ENSP00000499332.2:n.36-390T>C
ENST00000488652.6:c.81-393T>C ENSP00000499435.2:n.81-393T>C
ENST00000492907.6:c.36-390T>C ENSP00000499443.2:n.36-390T>C
ENST00000603546.2:c.81-393T>C ENSP00000474802.2:n.81-393T>C
ENST00000604005.6:c.81-393T>C ENSP00000474219.2:n.81-393T>C
ENST00000663479.2:c.81-390T>C ENSP00000499353.2:n.81-390T>C
ENST00000667293.2:c.81-393T>C ENSP00000499293.2:n.81-393T>C
ENST00000676826.2:c.2187-390T>C ENSP00000504675.2:n.2187-390T>C
ENST00000682092.1:n.371T>C
ENST00000682134.1:n.2184-393T>C
ENST00000682411.1:n.369T>C
ENST00000682590.1:n.371T>C
ENST00000682680.1:n.299T>C
ENST00000682803.1:c.-70-393T>C ENSP00000507069.1:n.-70-393T>C
ENST00000682829.1:n.2586-393T>C
ENST00000682917.1:n.307T>C
ENST00000682986.1:n.371T>C
ENST00000683015.1:c.1028-393T>C ENSP00000506815.1:n.1028-393T>C
ENST00000683632.1:n.380T>C
ENST00000683932.1:n.369T>C
ENST00000684284.1:n.2636-393T>C
ENST00000684466.1:n.371T>C
ENST00000684644.1:n.371T>C
ENST00000684761.1:n.371T>C
ENST00000306090.12:c.162-393T>C ENSP00000304472.12:n.162-393T>C
ENST00000349036.8:c.2142-393T>C ENSP00000265621.5:n.2142-393T>C
ENST00000354359.12:c.258-390T>C ENSP00000346328.7:n.258-390T>C
ENST00000371085.8:c.258-393T>C MANE Select ENSP00000360126.3:n.258-393T>C
ENST00000371100.9:c.2187-393T>C MANE Plus Clinical ENSP00000360141.3:n.2187-393T>C
ENST00000419558.6:c.*116-393T>C ENSP00000416234.2:n.*116-393T>C
ENST00000453292.6:c.*116-390T>C ENSP00000392000.2:n.*116-390T>C
ENST00000461152.6:c.983-390T>C ENSP00000499274.1:n.983-390T>C
ENST00000490374.6:n.423-393T>C
ENST00000657090.1:c.81-393T>C ENSP00000499380.1:n.81-393T>C
ENST00000663479.1:c.81-390T>C ENSP00000499353.1:n.81-390T>C
ENST00000667293.1:c.129-393T>C ENSP00000499293.1:n.129-393T>C
ENST00000676826.1:c.2187-390T>C ENSP00000504675.1:n.2187-390T>C
ENST00000265620.11:c.213-393T>C ENSP00000265620.7:n.213-393T>C
ENST00000306090.11:c.94-6629T>C ENSP00000304472.11:n.94-6629T>C
ENST00000313949.11:c.*161-393T>C ENSP00000323571.7:n.*161-393T>C
ENST00000349036.7:c.306-390T>C ENSP00000265621.4:n.306-390T>C
ENST00000354359.11:c.258-390T>C ENSP00000346328.7:n.258-390T>C
ENST00000371075.7:c.*161-390T>C MANE Plus Clinical ENSP00000360115.3:n.*161-390T>C
ENST00000371085.7:c.258-393T>C ENSP00000360126.3:n.258-393T>C
ENST00000371095.7:c.213-390T>C ENSP00000360136.3:n.213-390T>C
ENST00000371100.8:c.2187-393T>C ENSP00000360141.3:n.2187-393T>C
ENST00000371102.8:c.2142-390T>C ENSP00000360143.4:n.2142-390T>C
ENST00000419558.5:c.457-393T>C
ENST00000450130.5:c.301-393T>C
ENST00000453292.5:c.617-390T>C ENSP00000392000.1:n.617-390T>C
ENST00000461152.5:n.221-390T>C
ENST00000462499.5:n.332-390T>C
ENST00000464624.6:n.2474-393T>C
ENST00000464788.5:n.186-393T>C
ENST00000467227.5:n.196-390T>C
ENST00000467321.5:n.273-393T>C
ENST00000468895.5:n.124-390T>C
ENST00000469431.5:n.375-393T>C
ENST00000470512.5:n.329-390T>C
ENST00000472183.5:n.510-393T>C
ENST00000476196.5:n.158T>C
ENST00000476935.5:n.247-393T>C
ENST00000477931.5:n.373-393T>C
ENST00000478585.5:n.268-390T>C
ENST00000480232.5:n.274-390T>C
ENST00000480975.5:n.257-393T>C
ENST00000481039.5:n.175-393T>C
ENST00000482112.5:n.332-393T>C
ENST00000483387.1:n.568-393T>C
ENST00000485673.5:n.500-390T>C
ENST00000487862.5:n.489-390T>C
ENST00000488546.5:n.114-390T>C
ENST00000488652.5:n.348-393T>C
ENST00000490374.5:n.373-390T>C
ENST00000492907.5:n.206-390T>C
ENST00000496934.5:n.1547-393T>C
ENST00000603546.1:c.81-393T>C ENSP00000474802.1:n.81-393T>C
ENST00000604005.5:c.81-393T>C ENSP00000474219.1:n.81-393T>C
NM_000516.4:c.258-393T>C NP_000507.1:n.258-393T>C
NM_000516.5:c.258-393T>C NP_000507.1:n.258-393T>C
NM_001077488.2:c.258-390T>C NP_001070956.1:n.258-390T>C
NM_001077488.3:c.258-390T>C NP_001070956.1:n.258-390T>C
NM_001077489.2:c.213-393T>C NP_001070957.1:n.213-393T>C
NM_001077489.3:c.213-393T>C NP_001070957.1:n.213-393T>C
NM_001077490.1:c.*119-393T>C NP_001070958.1:n.*119-393T>C
NM_001077490.2:c.*119-393T>C NP_001070958.1:n.*119-393T>C
NM_001309840.1:c.81-393T>C NP_001296769.1:n.81-393T>C
NM_001309861.1:c.81-393T>C NP_001296790.1:n.81-393T>C
NM_016592.2:c.*161-390T>C NP_057676.1:n.*161-390T>C
NM_016592.3:c.*161-390T>C NP_057676.1:n.*161-390T>C
NM_080425.2:c.2187-393T>C NP_536350.2:n.2187-393T>C
NM_080425.3:c.2187-393T>C NP_536350.2:n.2187-393T>C
NM_080426.2:c.213-390T>C NP_536351.1:n.213-390T>C
NM_080426.3:c.213-390T>C NP_536351.1:n.213-390T>C
NR_003259.1:c.-4294966948-393T>C
XM_017027812.2:c.2187-390T>C XP_016883301.1:n.2187-390T>C
XM_017027813.2:c.2142-390T>C XP_016883302.1:n.2142-390T>C
XM_017027814.2:c.2142-393T>C XP_016883303.1:n.2142-393T>C
XM_017027815.1:c.117-393T>C XP_016883304.1:n.117-393T>C
XM_017027816.1:c.36-393T>C XP_016883305.1:n.36-393T>C
XM_017027817.1:c.36-393T>C XP_016883306.1:n.36-393T>C
XM_017027818.2:c.36-393T>C XP_016883307.1:n.36-393T>C
XM_017027819.1:c.36-393T>C XP_016883308.1:n.36-393T>C
XM_017027820.1:c.36-393T>C XP_016883309.1:n.36-393T>C
XM_017027821.1:c.*161-393T>C XP_016883310.1:n.*161-393T>C
XM_017027822.1:c.*116-393T>C XP_016883311.1:n.*116-393T>C
XM_024451872.1:c.162-393T>C XP_024307640.1:n.162-393T>C
XM_024451873.1:c.81-393T>C XP_024307641.1:n.81-393T>C
XM_024451874.1:c.81-393T>C XP_024307642.1:n.81-393T>C
XM_024451875.1:c.81-393T>C XP_024307643.1:n.81-393T>C
XR_002958471.1:n.965-393T>C
NM_000516.6:c.258-393T>C NP_000507.1:n.258-393T>C
NM_001077488.4:c.258-390T>C NP_001070956.1:n.258-390T>C
NM_001077489.4:c.213-393T>C NP_001070957.1:n.213-393T>C
NM_001309840.2:c.81-393T>C NP_001296769.1:n.81-393T>C
NM_001309861.2:c.81-393T>C NP_001296790.1:n.81-393T>C
NM_016592.4:c.*161-390T>C NP_057676.1:n.*161-390T>C
NM_080426.4:c.213-390T>C NP_536351.1:n.213-390T>C
NM_000516.7:c.258-393T>C MANE Select NP_000507.1:n.258-393T>C
NM_001077488.5:c.258-390T>C NP_001070956.1:n.258-390T>C
NM_001077490.3:c.*119-393T>C NP_001070958.1:n.*119-393T>C
NM_016592.5:c.*161-390T>C MANE Plus Clinical NP_057676.1:n.*161-390T>C
NM_080425.4:c.2187-393T>C MANE Plus Clinical NP_536350.2:n.2187-393T>C
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