Canonical Allele Identifier: CA159944

Gene: GNAS

Linked Data

• ClinVar Variation Id: 134484
• ClinVar RCV Id: RCV000121166 ; RCV000974148
• dbSNP Id: rs61749696
• ExAC: 20:57428948 G / C
• gnomAD v2: 20-57428948-G-C
• gnomAD v3: 20-58853893-G-C
• gnomAD v4: 20-58853893-G-C
• MyVariant Identifiers: chr20:g.57428948G>C (hg19) ; chr20:g.58853893G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58853893G>C , CM000682.2:g.58853893G>C	GRCh38
NC_000020.10:g.57428948G>C , CM000682.1:g.57428948G>C	GRCh37
NC_000020.9:g.56862343G>C	NCBI36
NG_016194.1:g.19154G>C
NG_021433.1:g.2011C>G
NG_016194.2:g.19154G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349036.9:c.628G>C	ENSP00000265621.6:p.Ala210Pro
ENST00000419558.7:c.*42+13007G>C	ENSP00000416234.2:n.*42+13007G>C
ENST00000423897.7:c.628G>C	ENSP00000412356.2:p.Ala210Pro
ENST00000453292.7:c.780+13007G>C	ENSP00000392000.2:n.780+13007G>C
ENST00000462499.6:c.-39+12018G>C	ENSP00000499758.2:n.-39+12018G>C
ENST00000464624.7:c.628G>C	ENSP00000499607.2:p.Ala210Pro
ENST00000467227.6:c.-39+9819G>C	ENSP00000499681.2:n.-39+9819G>C
ENST00000472183.6:c.-39+12018G>C	ENSP00000499673.2:n.-39+12018G>C
ENST00000482112.6:c.-39+12018G>C	ENSP00000499794.2:n.-39+12018G>C
ENST00000663479.2:c.-39+12018G>C	ENSP00000499353.2:n.-39+12018G>C
ENST00000676826.2:c.628G>C	ENSP00000504675.2:p.Ala210Pro
ENST00000306090.12:c.43+13007G>C	ENSP00000304472.12:n.43+13007G>C
ENST00000306120.4:c.633G>C	ENSP00000302237.4:p.Arg211Ser
ENST00000349036.8:c.628G>C	ENSP00000265621.5:p.Ala210Pro
ENST00000371100.9:c.628G>C MANE Plus Clinical	ENSP00000360141.3:p.Ala210Pro
ENST00000419558.6:c.*42+13007G>C	ENSP00000416234.2:n.*42+13007G>C
ENST00000423897.6:c.628G>C	ENSP00000412356.2:p.Ala210Pro
ENST00000453292.6:c.*42+13007G>C	ENSP00000392000.2:n.*42+13007G>C
ENST00000481768.6:c.628G>C	ENSP00000499644.2:p.Ala210Pro
ENST00000490374.6:n.222+12018G>C
ENST00000657090.1:c.-39+13953G>C	ENSP00000499380.1:n.-39+13953G>C
ENST00000663479.1:c.-39+12018G>C	ENSP00000499353.1:n.-39+12018G>C
ENST00000667293.1:c.10+13007G>C	ENSP00000499293.1:n.10+13007G>C
ENST00000676826.1:c.628G>C	ENSP00000504675.1:p.Ala210Pro
ENST00000306120.3:c.438G>C	ENSP00000302237.3:p.Arg146Ser
ENST00000313949.11:c.*42+13007G>C	ENSP00000323571.7:n.*42+13007G>C
ENST00000371075.7:c.*42+13007G>C MANE Plus Clinical	ENSP00000360115.3:n.*42+13007G>C
ENST00000371098.6:c.*42+13007G>C	ENSP00000360139.2:n.*42+13007G>C
ENST00000371099.6:c.628G>C	ENSP00000360140.2:p.Ala210Pro
ENST00000371100.8:c.628G>C	ENSP00000360141.3:p.Ala210Pro
ENST00000371102.8:c.628G>C	ENSP00000360143.4:p.Ala210Pro
ENST00000419558.5:c.383+13007G>C
ENST00000453292.5:c.543+13007G>C	ENSP00000392000.1:n.543+13007G>C
ENST00000462499.5:n.258+12018G>C
ENST00000464624.6:n.631G>C
ENST00000467227.5:n.122+9819G>C
ENST00000472183.5:n.391+12018G>C
ENST00000482112.5:n.258+12018G>C
ENST00000490374.5:n.254+12018G>C
ENST00000491348.5:n.533+12018G>C
ENST00000493744.5:n.232+12018G>C
NM_001077490.1:c.441G>C	NP_001070958.1:p.Arg147Ser
NM_001077490.2:c.441G>C	NP_001070958.1:p.Arg147Ser
NM_001309861.1:c.-39+12018G>C	NP_001296790.1:n.-39+12018G>C
NM_001309883.1:c.441G>C	NP_001296812.1:p.Arg147Ser
NM_016592.2:c.*42+13007G>C	NP_057676.1:n.*42+13007G>C
NM_016592.3:c.*42+13007G>C	NP_057676.1:n.*42+13007G>C
NM_080425.2:c.628G>C	NP_536350.2:p.Ala210Pro
NM_080425.3:c.628G>C	NP_536350.2:p.Ala210Pro
XM_017027812.2:c.628G>C	XP_016883301.1:p.Ala210Pro
XM_017027813.2:c.628G>C	XP_016883302.1:p.Ala210Pro
XM_017027814.2:c.628G>C	XP_016883303.1:p.Ala210Pro
XM_017027815.1:c.43+13007G>C	XP_016883304.1:n.43+13007G>C
XM_017027821.1:c.*42+13007G>C	XP_016883310.1:n.*42+13007G>C
XM_017027822.1:c.*42+13007G>C	XP_016883311.1:n.*42+13007G>C
XM_024451872.1:c.43+13007G>C	XP_024307640.1:n.43+13007G>C
NM_001309861.2:c.-39+12018G>C	NP_001296790.1:n.-39+12018G>C
NM_016592.4:c.*42+13007G>C	NP_057676.1:n.*42+13007G>C
NM_001077490.3:c.441G>C	NP_001070958.1:p.Arg147Ser
NM_016592.5:c.*42+13007G>C MANE Plus Clinical	NP_057676.1:n.*42+13007G>C
NM_080425.4:c.628G>C MANE Plus Clinical	NP_536350.2:p.Ala210Pro