Canonical Allele Identifier: CA409451772
Gene: GNAS HGNC NCBI
GNAS-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.58840536G>C , CM000682.2:g.58840536G>C GRCh38
NC_000020.10:g.57415591G>C , CM000682.1:g.57415591G>C GRCh37
NC_000020.9:g.56848986G>C NCBI36
NG_016194.1:g.5797G>C
NG_021433.1:g.15368C>G
NG_016194.2:g.5797G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000419558.7:c.430G>C (GNAS) ENSP00000416234.2:p.Asp144His
ENST00000453292.7:c.430G>C (GNAS) ENSP00000392000.2:p.Asp144His
ENST00000419558.6:c.430G>C (GNAS) ENSP00000416234.2:p.Asp144His
ENST00000453292.6:c.430G>C (GNAS) ENSP00000392000.2:p.Asp144His
ENST00000657090.1:c.-39+596G>C (GNAS) ENSP00000499380.1:n.-39+596G>C
ENST00000667293.1:c.-27-314G>C (GNAS) ENSP00000499293.1:n.-27-314G>C
ENST00000313949.11:c.430G>C (GNAS) ENSP00000323571.7:p.Asp144His
ENST00000371075.7:c.430G>C (GNAS) MANE Plus Clinical ENSP00000360115.3:p.Asp144His
ENST00000371098.6:c.430G>C (GNAS) ENSP00000360139.2:p.Asp144His
ENST00000419558.5:c.33G>C (GNAS)
ENST00000453292.5:c.193G>C (GNAS) ENSP00000392000.1:p.Asp65His
NM_016592.2:c.430G>C (GNAS) NP_057676.1:p.Asp144His
NM_016592.3:c.430G>C (GNAS) NP_057676.1:p.Asp144His
NR_002785.2:n.819+1401C>G (GNAS-AS1)
XM_017027821.1:c.430G>C (GNAS) XP_016883310.1:p.Asp144His
XM_017027822.1:c.430G>C (GNAS) XP_016883311.1:p.Asp144His
XM_024451872.1:c.-308G>C (GNAS) XP_024307640.1:n.-308G>C
NM_016592.4:c.430G>C (GNAS) NP_057676.1:p.Asp144His
NM_016592.5:c.430G>C (GNAS) MANE Plus Clinical NP_057676.1:p.Asp144His