Canonical Allele Identifier: CA409453411
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1345821898

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840798C>T , CM000682.2:g.58840798C>T GRCh38
NC_000020.10:g.57415853C>T , CM000682.1:g.57415853C>T GRCh37
NC_000020.9:g.56849248C>T NCBI36
NG_016194.1:g.6059C>T
NG_021433.1:g.15106G>A
NG_016194.2:g.6059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.692C>T (GNAS) ENSP00000416234.2:p.Pro231Leu
ENST00000453292.7:c.692C>T (GNAS) ENSP00000392000.2:p.Pro231Leu
ENST00000419558.6:c.692C>T (GNAS) ENSP00000416234.2:p.Pro231Leu
ENST00000453292.6:c.692C>T (GNAS) ENSP00000392000.2:p.Pro231Leu
ENST00000657090.1:c.-39+858C>T (GNAS) ENSP00000499380.1:n.-39+858C>T
ENST00000667293.1:c.-27-52C>T (GNAS) ENSP00000499293.1:n.-27-52C>T
ENST00000313949.11:c.692C>T (GNAS) ENSP00000323571.7:p.Pro231Leu
ENST00000371075.7:c.692C>T (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Pro231Leu
ENST00000371098.6:c.692C>T (GNAS) ENSP00000360139.2:p.Pro231Leu
ENST00000419558.5:c.295C>T (GNAS)
ENST00000453292.5:c.455C>T (GNAS) ENSP00000392000.1:p.Pro152Leu
NM_016592.2:c.692C>T (GNAS) NP_057676.1:p.Pro231Leu
NM_016592.3:c.692C>T (GNAS) NP_057676.1:p.Pro231Leu
NR_002785.2:n.819+1139G>A (GNAS-AS1)
XM_017027815.1:c.-46C>T (GNAS) XP_016883304.1:n.-46C>T
XM_017027821.1:c.692C>T (GNAS) XP_016883310.1:p.Pro231Leu
XM_017027822.1:c.692C>T (GNAS) XP_016883311.1:p.Pro231Leu
XM_024451872.1:c.-46C>T (GNAS) XP_024307640.1:n.-46C>T
NM_016592.4:c.692C>T (GNAS) NP_057676.1:p.Pro231Leu
NM_016592.5:c.692C>T (GNAS) MANE Plus Clinical NP_057676.1:p.Pro231Leu