Canonical Allele Identifier: CA511315922
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2672880
ClinVar RCV Id: RCV003457334
dbSNP Id: rs756503903
MyVariant Identifiers: chr20:g.57415692C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840637C>G , CM000682.2:g.58840637C>G GRCh38
NC_000020.10:g.57415692C>G , CM000682.1:g.57415692C>G GRCh37
NC_000020.9:g.56849087C>G NCBI36
NG_016194.1:g.5898C>G
NG_021433.1:g.15267G>C
NG_016194.2:g.5898C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.531C>G (GNAS) ENSP00000416234.2:p.Arg177=
ENST00000453292.7:c.531C>G (GNAS) ENSP00000392000.2:p.Arg177=
ENST00000419558.6:c.531C>G (GNAS) ENSP00000416234.2:p.Arg177=
ENST00000453292.6:c.531C>G (GNAS) ENSP00000392000.2:p.Arg177=
ENST00000657090.1:c.-39+697C>G (GNAS) ENSP00000499380.1:n.-39+697C>G
ENST00000667293.1:c.-27-213C>G (GNAS) ENSP00000499293.1:n.-27-213C>G
ENST00000313949.11:c.531C>G (GNAS) ENSP00000323571.7:p.Arg177=
ENST00000371075.7:c.531C>G (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Arg177=
ENST00000371098.6:c.531C>G (GNAS) ENSP00000360139.2:p.Arg177=
ENST00000419558.5:c.134C>G (GNAS)
ENST00000453292.5:c.294C>G (GNAS) ENSP00000392000.1:p.Arg98=
NM_016592.2:c.531C>G (GNAS) NP_057676.1:p.Arg177=
NM_016592.3:c.531C>G (GNAS) NP_057676.1:p.Arg177=
NR_002785.2:n.819+1300G>C (GNAS-AS1)
XM_017027821.1:c.531C>G (GNAS) XP_016883310.1:p.Arg177=
XM_017027822.1:c.531C>G (GNAS) XP_016883311.1:p.Arg177=
XM_024451872.1:c.-207C>G (GNAS) XP_024307640.1:n.-207C>G
NM_016592.4:c.531C>G (GNAS) NP_057676.1:p.Arg177=
NM_016592.5:c.531C>G (GNAS) MANE Plus Clinical NP_057676.1:p.Arg177=