Canonical Allele Identifier: CA9926361

Gene: GNAS GNAS-AS1

Linked Data

• ClinVar Variation Id: 3059708
• ClinVar RCV Id: RCV004542557
• dbSNP Id: rs772869359
• ExAC: 20:57415731 A / G
• gnomAD v2: 20-57415731-A-G
• gnomAD v3: 20-58840676-A-G
• gnomAD v4: 20-58840676-A-G
• MyVariant Identifiers: chr20:g.57415731A>G (hg19) ; chr20:g.58840676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840676A>G , CM000682.2:g.58840676A>G	GRCh38
NC_000020.10:g.57415731A>G , CM000682.1:g.57415731A>G	GRCh37
NC_000020.9:g.56849126A>G	NCBI36
NG_016194.1:g.5937A>G
NG_021433.1:g.15228T>C
NG_016194.2:g.5937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.570A>G (GNAS)	ENSP00000416234.2:p.Glu190=
ENST00000453292.7:c.570A>G (GNAS)	ENSP00000392000.2:p.Glu190=
ENST00000419558.6:c.570A>G (GNAS)	ENSP00000416234.2:p.Glu190=
ENST00000453292.6:c.570A>G (GNAS)	ENSP00000392000.2:p.Glu190=
ENST00000657090.1:c.-39+736A>G (GNAS)	ENSP00000499380.1:n.-39+736A>G
ENST00000667293.1:c.-27-174A>G (GNAS)	ENSP00000499293.1:n.-27-174A>G
ENST00000313949.11:c.570A>G (GNAS)	ENSP00000323571.7:p.Glu190=
ENST00000371075.7:c.570A>G (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu190=
ENST00000371098.6:c.570A>G (GNAS)	ENSP00000360139.2:p.Glu190=
ENST00000419558.5:c.173A>G (GNAS)
ENST00000453292.5:c.333A>G (GNAS)	ENSP00000392000.1:p.Glu111=
NM_016592.2:c.570A>G (GNAS)	NP_057676.1:p.Glu190=
NM_016592.3:c.570A>G (GNAS)	NP_057676.1:p.Glu190=
NR_002785.2:n.819+1261T>C (GNAS-AS1)
XM_017027821.1:c.570A>G (GNAS)	XP_016883310.1:p.Glu190=
XM_017027822.1:c.570A>G (GNAS)	XP_016883311.1:p.Glu190=
XM_024451872.1:c.-168A>G (GNAS)	XP_024307640.1:n.-168A>G
NM_016592.4:c.570A>G (GNAS)	NP_057676.1:p.Glu190=
NM_016592.5:c.570A>G (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu190=