Canonical Allele Identifier: CA159964
Gene: GNAS HGNC NCBI
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58855063C>G , CM000682.2:g.58855063C>G GRCh38
NC_000020.10:g.57430118C>G , CM000682.1:g.57430118C>G GRCh37
NC_000020.9:g.56863513C>G NCBI36
NG_016194.1:g.20324C>G
NG_021433.1:g.841G>C
NG_016194.2:g.20324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349036.9:c.1798C>G ENSP00000265621.6:p.Arg600Gly
ENST00000419558.7:c.*42+14177C>G ENSP00000416234.2:n.*42+14177C>G
ENST00000423897.7:c.1798C>G ENSP00000412356.2:p.Arg600Gly
ENST00000453292.7:c.780+14177C>G ENSP00000392000.2:n.780+14177C>G
ENST00000462499.6:c.-39+13188C>G ENSP00000499758.2:n.-39+13188C>G
ENST00000464624.7:c.1798C>G ENSP00000499607.2:p.Arg600Gly
ENST00000467227.6:c.-39+10989C>G ENSP00000499681.2:n.-39+10989C>G
ENST00000472183.6:c.-39+13188C>G ENSP00000499673.2:n.-39+13188C>G
ENST00000482112.6:c.-39+13188C>G ENSP00000499794.2:n.-39+13188C>G
ENST00000663479.2:c.-39+13188C>G ENSP00000499353.2:n.-39+13188C>G
ENST00000676826.2:c.1798C>G ENSP00000504675.2:p.Arg600Gly
ENST00000306090.12:c.43+14177C>G ENSP00000304472.12:n.43+14177C>G
ENST00000306120.4:c.1803C>G ENSP00000302237.4:p.Ala601=
ENST00000349036.8:c.1798C>G ENSP00000265621.5:p.Arg600Gly
ENST00000371100.9:c.1798C>G MANE Plus Clinical ENSP00000360141.3:p.Arg600Gly
ENST00000419558.6:c.*42+14177C>G ENSP00000416234.2:n.*42+14177C>G
ENST00000423897.6:c.1798C>G ENSP00000412356.2:p.Arg600Gly
ENST00000453292.6:c.*42+14177C>G ENSP00000392000.2:n.*42+14177C>G
ENST00000481768.6:c.1798C>G ENSP00000499644.2:p.Arg600Gly
ENST00000490374.6:n.222+13188C>G
ENST00000657090.1:c.-39+15123C>G ENSP00000499380.1:n.-39+15123C>G
ENST00000663479.1:c.-39+13188C>G ENSP00000499353.1:n.-39+13188C>G
ENST00000667293.1:c.10+14177C>G ENSP00000499293.1:n.10+14177C>G
ENST00000676826.1:c.1798C>G ENSP00000504675.1:p.Arg600Gly
ENST00000306120.3:c.1608C>G ENSP00000302237.3:p.Ala536=
ENST00000313949.11:c.*42+14177C>G ENSP00000323571.7:n.*42+14177C>G
ENST00000371075.7:c.*42+14177C>G MANE Plus Clinical ENSP00000360115.3:n.*42+14177C>G
ENST00000371098.6:c.*42+14177C>G ENSP00000360139.2:n.*42+14177C>G
ENST00000371099.6:c.1798C>G ENSP00000360140.2:p.Arg600Gly
ENST00000371100.8:c.1798C>G ENSP00000360141.3:p.Arg600Gly
ENST00000371102.8:c.1798C>G ENSP00000360143.4:p.Arg600Gly
ENST00000419558.5:c.383+14177C>G
ENST00000453292.5:c.543+14177C>G ENSP00000392000.1:n.543+14177C>G
ENST00000462499.5:n.258+13188C>G
ENST00000464624.6:n.1801C>G
ENST00000467227.5:n.122+10989C>G
ENST00000472183.5:n.391+13188C>G
ENST00000481768.5:n.895C>G
ENST00000482112.5:n.258+13188C>G
ENST00000490374.5:n.254+13188C>G
ENST00000491348.5:n.533+13188C>G
ENST00000493744.5:n.232+13188C>G
NM_001077490.1:c.1611C>G NP_001070958.1:p.Ala537=
NM_001077490.2:c.1611C>G NP_001070958.1:p.Ala537=
NM_001309861.1:c.-39+13188C>G NP_001296790.1:n.-39+13188C>G
NM_001309883.1:c.1611C>G NP_001296812.1:p.Ala537=
NM_016592.2:c.*42+14177C>G NP_057676.1:n.*42+14177C>G
NM_016592.3:c.*42+14177C>G NP_057676.1:n.*42+14177C>G
NM_080425.2:c.1798C>G NP_536350.2:p.Arg600Gly
NM_080425.3:c.1798C>G NP_536350.2:p.Arg600Gly
XM_017027812.2:c.1798C>G XP_016883301.1:p.Arg600Gly
XM_017027813.2:c.1798C>G XP_016883302.1:p.Arg600Gly
XM_017027814.2:c.1798C>G XP_016883303.1:p.Arg600Gly
XM_017027815.1:c.43+14177C>G XP_016883304.1:n.43+14177C>G
XM_017027821.1:c.*42+14177C>G XP_016883310.1:n.*42+14177C>G
XM_017027822.1:c.*42+14177C>G XP_016883311.1:n.*42+14177C>G
XM_024451872.1:c.43+14177C>G XP_024307640.1:n.43+14177C>G
NM_001309861.2:c.-39+13188C>G NP_001296790.1:n.-39+13188C>G
NM_016592.4:c.*42+14177C>G NP_057676.1:n.*42+14177C>G
NM_001077490.3:c.1611C>G NP_001070958.1:p.Ala537=
NM_016592.5:c.*42+14177C>G MANE Plus Clinical NP_057676.1:n.*42+14177C>G
NM_080425.4:c.1798C>G MANE Plus Clinical NP_536350.2:p.Arg600Gly