Canonical Allele Identifier: CA409452589

Gene: GNAS GNAS-AS1

Linked Data

• MyVariant Identifiers: chr20:g.57415694C>A (hg19) ; chr20:g.58840639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840639C>A , CM000682.2:g.58840639C>A	GRCh38
NC_000020.10:g.57415694C>A , CM000682.1:g.57415694C>A	GRCh37
NC_000020.9:g.56849089C>A	NCBI36
NG_016194.1:g.5900C>A
NG_021433.1:g.15265G>T
NG_016194.2:g.5900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.533C>A (GNAS)	ENSP00000416234.2:p.Ala178Glu
ENST00000453292.7:c.533C>A (GNAS)	ENSP00000392000.2:p.Ala178Glu
ENST00000419558.6:c.533C>A (GNAS)	ENSP00000416234.2:p.Ala178Glu
ENST00000453292.6:c.533C>A (GNAS)	ENSP00000392000.2:p.Ala178Glu
ENST00000657090.1:c.-39+699C>A (GNAS)	ENSP00000499380.1:n.-39+699C>A
ENST00000667293.1:c.-27-211C>A (GNAS)	ENSP00000499293.1:n.-27-211C>A
ENST00000313949.11:c.533C>A (GNAS)	ENSP00000323571.7:p.Ala178Glu
ENST00000371075.7:c.533C>A (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Ala178Glu
ENST00000371098.6:c.533C>A (GNAS)	ENSP00000360139.2:p.Ala178Glu
ENST00000419558.5:c.136C>A (GNAS)
ENST00000453292.5:c.296C>A (GNAS)	ENSP00000392000.1:p.Ala99Glu
NM_016592.2:c.533C>A (GNAS)	NP_057676.1:p.Ala178Glu
NM_016592.3:c.533C>A (GNAS)	NP_057676.1:p.Ala178Glu
NR_002785.2:n.819+1298G>T (GNAS-AS1)
XM_017027821.1:c.533C>A (GNAS)	XP_016883310.1:p.Ala178Glu
XM_017027822.1:c.533C>A (GNAS)	XP_016883311.1:p.Ala178Glu
XM_024451872.1:c.-205C>A (GNAS)	XP_024307640.1:n.-205C>A
NM_016592.4:c.533C>A (GNAS)	NP_057676.1:p.Ala178Glu
NM_016592.5:c.533C>A (GNAS) MANE Plus Clinical	NP_057676.1:p.Ala178Glu