Canonical Allele Identifier: CA409451891
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1449135586

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840591G>A , CM000682.2:g.58840591G>A GRCh38
NC_000020.10:g.57415646G>A , CM000682.1:g.57415646G>A GRCh37
NC_000020.9:g.56849041G>A NCBI36
NG_016194.1:g.5852G>A
NG_021433.1:g.15313C>T
NG_016194.2:g.5852G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.485G>A (GNAS) ENSP00000416234.2:p.Arg162His
ENST00000453292.7:c.485G>A (GNAS) ENSP00000392000.2:p.Arg162His
ENST00000419558.6:c.485G>A (GNAS) ENSP00000416234.2:p.Arg162His
ENST00000453292.6:c.485G>A (GNAS) ENSP00000392000.2:p.Arg162His
ENST00000657090.1:c.-39+651G>A (GNAS) ENSP00000499380.1:n.-39+651G>A
ENST00000667293.1:c.-27-259G>A (GNAS) ENSP00000499293.1:n.-27-259G>A
ENST00000313949.11:c.485G>A (GNAS) ENSP00000323571.7:p.Arg162His
ENST00000371075.7:c.485G>A (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Arg162His
ENST00000371098.6:c.485G>A (GNAS) ENSP00000360139.2:p.Arg162His
ENST00000419558.5:c.88G>A (GNAS)
ENST00000453292.5:c.248G>A (GNAS) ENSP00000392000.1:p.Arg83His
NM_016592.2:c.485G>A (GNAS) NP_057676.1:p.Arg162His
NM_016592.3:c.485G>A (GNAS) NP_057676.1:p.Arg162His
NR_002785.2:n.819+1346C>T (GNAS-AS1)
XM_017027821.1:c.485G>A (GNAS) XP_016883310.1:p.Arg162His
XM_017027822.1:c.485G>A (GNAS) XP_016883311.1:p.Arg162His
XM_024451872.1:c.-253G>A (GNAS) XP_024307640.1:n.-253G>A
NM_016592.4:c.485G>A (GNAS) NP_057676.1:p.Arg162His
NM_016592.5:c.485G>A (GNAS) MANE Plus Clinical NP_057676.1:p.Arg162His