Canonical Allele Identifier: CA636607531
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1305362189

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840882T>C , CM000682.2:g.58840882T>C GRCh38
NC_000020.10:g.57415937T>C , CM000682.1:g.57415937T>C GRCh37
NC_000020.9:g.56849332T>C NCBI36
NG_016194.1:g.6143T>C
NG_021433.1:g.15022A>G
NG_016194.2:g.6143T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.*38T>C (GNAS) ENSP00000416234.2:n.*38T>C
ENST00000453292.7:c.776T>C (GNAS) ENSP00000392000.2:n.776T>C
ENST00000306090.12:c.39T>C (GNAS) ENSP00000304472.12:p.Asp13=
ENST00000419558.6:c.*38T>C (GNAS) ENSP00000416234.2:n.*38T>C
ENST00000453292.6:c.*38T>C (GNAS) ENSP00000392000.2:n.*38T>C
ENST00000657090.1:c.-39+942T>C (GNAS) ENSP00000499380.1:n.-39+942T>C
ENST00000667293.1:c.6T>C (GNAS) ENSP00000499293.1:p.Asp2=
ENST00000313949.11:c.*38T>C (GNAS) ENSP00000323571.7:n.*38T>C
ENST00000371075.7:c.*38T>C (GNAS) MANE Plus Clinical ENSP00000360115.3:n.*38T>C
ENST00000371098.6:c.*38T>C (GNAS) ENSP00000360139.2:n.*38T>C
ENST00000419558.5:c.379T>C (GNAS)
ENST00000453292.5:c.539T>C (GNAS) ENSP00000392000.1:n.539T>C
NM_016592.2:c.*38T>C (GNAS) NP_057676.1:n.*38T>C
NM_016592.3:c.*38T>C (GNAS) NP_057676.1:n.*38T>C
NR_002785.2:n.819+1055A>G (GNAS-AS1)
XM_017027815.1:c.39T>C (GNAS) XP_016883304.1:p.Asp13=
XM_017027821.1:c.*38T>C (GNAS) XP_016883310.1:n.*38T>C
XM_017027822.1:c.*38T>C (GNAS) XP_016883311.1:n.*38T>C
XM_024451872.1:c.39T>C (GNAS) XP_024307640.1:p.Asp13=
NM_016592.4:c.*38T>C (GNAS) NP_057676.1:n.*38T>C
NM_016592.5:c.*38T>C (GNAS) MANE Plus Clinical NP_057676.1:n.*38T>C