Canonical Allele Identifier: CA409451808
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1600655652

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840552T>C , CM000682.2:g.58840552T>C GRCh38
NC_000020.10:g.57415607T>C , CM000682.1:g.57415607T>C GRCh37
NC_000020.9:g.56849002T>C NCBI36
NG_016194.1:g.5813T>C
NG_021433.1:g.15352A>G
NG_016194.2:g.5813T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.446T>C (GNAS) ENSP00000416234.2:p.Val149Ala
ENST00000453292.7:c.446T>C (GNAS) ENSP00000392000.2:p.Val149Ala
ENST00000419558.6:c.446T>C (GNAS) ENSP00000416234.2:p.Val149Ala
ENST00000453292.6:c.446T>C (GNAS) ENSP00000392000.2:p.Val149Ala
ENST00000657090.1:c.-39+612T>C (GNAS) ENSP00000499380.1:n.-39+612T>C
ENST00000667293.1:c.-27-298T>C (GNAS) ENSP00000499293.1:n.-27-298T>C
ENST00000313949.11:c.446T>C (GNAS) ENSP00000323571.7:p.Val149Ala
ENST00000371075.7:c.446T>C (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Val149Ala
ENST00000371098.6:c.446T>C (GNAS) ENSP00000360139.2:p.Val149Ala
ENST00000419558.5:c.49T>C (GNAS)
ENST00000453292.5:c.209T>C (GNAS) ENSP00000392000.1:p.Val70Ala
NM_016592.2:c.446T>C (GNAS) NP_057676.1:p.Val149Ala
NM_016592.3:c.446T>C (GNAS) NP_057676.1:p.Val149Ala
NR_002785.2:n.819+1385A>G (GNAS-AS1)
XM_017027821.1:c.446T>C (GNAS) XP_016883310.1:p.Val149Ala
XM_017027822.1:c.446T>C (GNAS) XP_016883311.1:p.Val149Ala
XM_024451872.1:c.-292T>C (GNAS) XP_024307640.1:n.-292T>C
NM_016592.4:c.446T>C (GNAS) NP_057676.1:p.Val149Ala
NM_016592.5:c.446T>C (GNAS) MANE Plus Clinical NP_057676.1:p.Val149Ala