Canonical Allele Identifier: CA409452881

Gene: GNAS GNAS-AS1

Linked Data

• ClinVar Variation Id: 3048767
• ClinVar RCV Id: RCV004544036
• dbSNP Id: rs1385031952
• gnomAD v2: 20-57415750-G-A
• gnomAD v3: 20-58840695-G-A
• gnomAD v4: 20-58840695-G-A
• MyVariant Identifiers: chr20:g.57415750G>A (hg19) ; chr20:g.58840695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840695G>A , CM000682.2:g.58840695G>A	GRCh38
NC_000020.10:g.57415750G>A , CM000682.1:g.57415750G>A	GRCh37
NC_000020.9:g.56849145G>A	NCBI36
NG_016194.1:g.5956G>A
NG_021433.1:g.15209C>T
NG_016194.2:g.5956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.589G>A (GNAS)	ENSP00000416234.2:p.Glu197Lys
ENST00000453292.7:c.589G>A (GNAS)	ENSP00000392000.2:p.Glu197Lys
ENST00000419558.6:c.589G>A (GNAS)	ENSP00000416234.2:p.Glu197Lys
ENST00000453292.6:c.589G>A (GNAS)	ENSP00000392000.2:p.Glu197Lys
ENST00000657090.1:c.-39+755G>A (GNAS)	ENSP00000499380.1:n.-39+755G>A
ENST00000667293.1:c.-27-155G>A (GNAS)	ENSP00000499293.1:n.-27-155G>A
ENST00000313949.11:c.589G>A (GNAS)	ENSP00000323571.7:p.Glu197Lys
ENST00000371075.7:c.589G>A (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu197Lys
ENST00000371098.6:c.589G>A (GNAS)	ENSP00000360139.2:p.Glu197Lys
ENST00000419558.5:c.192G>A (GNAS)
ENST00000453292.5:c.352G>A (GNAS)	ENSP00000392000.1:p.Glu118Lys
NM_016592.2:c.589G>A (GNAS)	NP_057676.1:p.Glu197Lys
NM_016592.3:c.589G>A (GNAS)	NP_057676.1:p.Glu197Lys
NR_002785.2:n.819+1242C>T (GNAS-AS1)
XM_017027821.1:c.589G>A (GNAS)	XP_016883310.1:p.Glu197Lys
XM_017027822.1:c.589G>A (GNAS)	XP_016883311.1:p.Glu197Lys
XM_024451872.1:c.-149G>A (GNAS)	XP_024307640.1:n.-149G>A
NM_016592.4:c.589G>A (GNAS)	NP_057676.1:p.Glu197Lys
NM_016592.5:c.589G>A (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu197Lys