Canonical Allele Identifier: CA409453155

Gene: GNAS GNAS-AS1

Linked Data

• gnomAD v4: 20-58840747-A-G
• MyVariant Identifiers: chr20:g.57415802A>G (hg19) ; chr20:g.58840747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840747A>G , CM000682.2:g.58840747A>G	GRCh38
NC_000020.10:g.57415802A>G , CM000682.1:g.57415802A>G	GRCh37
NC_000020.9:g.56849197A>G	NCBI36
NG_016194.1:g.6008A>G
NG_021433.1:g.15157T>C
NG_016194.2:g.6008A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.641A>G (GNAS)	ENSP00000416234.2:p.Lys214Arg
ENST00000453292.7:c.641A>G (GNAS)	ENSP00000392000.2:p.Lys214Arg
ENST00000419558.6:c.641A>G (GNAS)	ENSP00000416234.2:p.Lys214Arg
ENST00000453292.6:c.641A>G (GNAS)	ENSP00000392000.2:p.Lys214Arg
ENST00000657090.1:c.-39+807A>G (GNAS)	ENSP00000499380.1:n.-39+807A>G
ENST00000667293.1:c.-27-103A>G (GNAS)	ENSP00000499293.1:n.-27-103A>G
ENST00000313949.11:c.641A>G (GNAS)	ENSP00000323571.7:p.Lys214Arg
ENST00000371075.7:c.641A>G (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Lys214Arg
ENST00000371098.6:c.641A>G (GNAS)	ENSP00000360139.2:p.Lys214Arg
ENST00000419558.5:c.244A>G (GNAS)
ENST00000453292.5:c.404A>G (GNAS)	ENSP00000392000.1:p.Lys135Arg
NM_016592.2:c.641A>G (GNAS)	NP_057676.1:p.Lys214Arg
NM_016592.3:c.641A>G (GNAS)	NP_057676.1:p.Lys214Arg
NR_002785.2:n.819+1190T>C (GNAS-AS1)
XM_017027821.1:c.641A>G (GNAS)	XP_016883310.1:p.Lys214Arg
XM_017027822.1:c.641A>G (GNAS)	XP_016883311.1:p.Lys214Arg
XM_024451872.1:c.-97A>G (GNAS)	XP_024307640.1:n.-97A>G
NM_016592.4:c.641A>G (GNAS)	NP_057676.1:p.Lys214Arg
NM_016592.5:c.641A>G (GNAS) MANE Plus Clinical	NP_057676.1:p.Lys214Arg