Canonical Allele Identifier: CA409451756
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840530G>A , CM000682.2:g.58840530G>A GRCh38
NC_000020.10:g.57415585G>A , CM000682.1:g.57415585G>A GRCh37
NC_000020.9:g.56848980G>A NCBI36
NG_016194.1:g.5791G>A
NG_021433.1:g.15374C>T
NG_016194.2:g.5791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.424G>A (GNAS) ENSP00000416234.2:p.Glu142Lys
ENST00000453292.7:c.424G>A (GNAS) ENSP00000392000.2:p.Glu142Lys
ENST00000419558.6:c.424G>A (GNAS) ENSP00000416234.2:p.Glu142Lys
ENST00000453292.6:c.424G>A (GNAS) ENSP00000392000.2:p.Glu142Lys
ENST00000657090.1:c.-39+590G>A (GNAS) ENSP00000499380.1:n.-39+590G>A
ENST00000667293.1:c.-27-320G>A (GNAS) ENSP00000499293.1:n.-27-320G>A
ENST00000313949.11:c.424G>A (GNAS) ENSP00000323571.7:p.Glu142Lys
ENST00000371075.7:c.424G>A (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Glu142Lys
ENST00000371098.6:c.424G>A (GNAS) ENSP00000360139.2:p.Glu142Lys
ENST00000419558.5:c.27G>A (GNAS)
ENST00000453292.5:c.187G>A (GNAS) ENSP00000392000.1:p.Glu63Lys
NM_016592.2:c.424G>A (GNAS) NP_057676.1:p.Glu142Lys
NM_016592.3:c.424G>A (GNAS) NP_057676.1:p.Glu142Lys
NR_002785.2:n.819+1407C>T (GNAS-AS1)
XM_017027821.1:c.424G>A (GNAS) XP_016883310.1:p.Glu142Lys
XM_017027822.1:c.424G>A (GNAS) XP_016883311.1:p.Glu142Lys
XM_024451872.1:c.-314G>A (GNAS) XP_024307640.1:n.-314G>A
NM_016592.4:c.424G>A (GNAS) NP_057676.1:p.Glu142Lys
NM_016592.5:c.424G>A (GNAS) MANE Plus Clinical NP_057676.1:p.Glu142Lys