Canonical Allele Identifier: CA409452682

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs2085681870
• gnomAD v3: 20-58840656-G-A
• gnomAD v4: 20-58840656-G-A
• MyVariant Identifiers: chr20:g.57415711G>A (hg19) ; chr20:g.58840656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840656G>A , CM000682.2:g.58840656G>A	GRCh38
NC_000020.10:g.57415711G>A , CM000682.1:g.57415711G>A	GRCh37
NC_000020.9:g.56849106G>A	NCBI36
NG_016194.1:g.5917G>A
NG_021433.1:g.15248C>T
NG_016194.2:g.5917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.550G>A (GNAS)	ENSP00000416234.2:p.Glu184Lys
ENST00000453292.7:c.550G>A (GNAS)	ENSP00000392000.2:p.Glu184Lys
ENST00000419558.6:c.550G>A (GNAS)	ENSP00000416234.2:p.Glu184Lys
ENST00000453292.6:c.550G>A (GNAS)	ENSP00000392000.2:p.Glu184Lys
ENST00000657090.1:c.-39+716G>A (GNAS)	ENSP00000499380.1:n.-39+716G>A
ENST00000667293.1:c.-27-194G>A (GNAS)	ENSP00000499293.1:n.-27-194G>A
ENST00000313949.11:c.550G>A (GNAS)	ENSP00000323571.7:p.Glu184Lys
ENST00000371075.7:c.550G>A (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Glu184Lys
ENST00000371098.6:c.550G>A (GNAS)	ENSP00000360139.2:p.Glu184Lys
ENST00000419558.5:c.153G>A (GNAS)
ENST00000453292.5:c.313G>A (GNAS)	ENSP00000392000.1:p.Glu105Lys
NM_016592.2:c.550G>A (GNAS)	NP_057676.1:p.Glu184Lys
NM_016592.3:c.550G>A (GNAS)	NP_057676.1:p.Glu184Lys
NR_002785.2:n.819+1281C>T (GNAS-AS1)
XM_017027821.1:c.550G>A (GNAS)	XP_016883310.1:p.Glu184Lys
XM_017027822.1:c.550G>A (GNAS)	XP_016883311.1:p.Glu184Lys
XM_024451872.1:c.-188G>A (GNAS)	XP_024307640.1:n.-188G>A
NM_016592.4:c.550G>A (GNAS)	NP_057676.1:p.Glu184Lys
NM_016592.5:c.550G>A (GNAS) MANE Plus Clinical	NP_057676.1:p.Glu184Lys