Canonical Allele Identifier: CA511316073

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs1490961354
• gnomAD v2: 20-57415662-G-A
• gnomAD v4: 20-58840607-G-A
• MyVariant Identifiers: chr20:g.57415662G>A (hg19) ; chr20:g.58840607G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840607G>A , CM000682.2:g.58840607G>A	GRCh38
NC_000020.10:g.57415662G>A , CM000682.1:g.57415662G>A	GRCh37
NC_000020.9:g.56849057G>A	NCBI36
NG_016194.1:g.5868G>A
NG_021433.1:g.15297C>T
NG_016194.2:g.5868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.501G>A (GNAS)	ENSP00000416234.2:p.Lys167=
ENST00000453292.7:c.501G>A (GNAS)	ENSP00000392000.2:p.Lys167=
ENST00000419558.6:c.501G>A (GNAS)	ENSP00000416234.2:p.Lys167=
ENST00000453292.6:c.501G>A (GNAS)	ENSP00000392000.2:p.Lys167=
ENST00000657090.1:c.-39+667G>A (GNAS)	ENSP00000499380.1:n.-39+667G>A
ENST00000667293.1:c.-27-243G>A (GNAS)	ENSP00000499293.1:n.-27-243G>A
ENST00000313949.11:c.501G>A (GNAS)	ENSP00000323571.7:p.Lys167=
ENST00000371075.7:c.501G>A (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.Lys167=
ENST00000371098.6:c.501G>A (GNAS)	ENSP00000360139.2:p.Lys167=
ENST00000419558.5:c.104G>A (GNAS)
ENST00000453292.5:c.264G>A (GNAS)	ENSP00000392000.1:p.Lys88=
NM_016592.2:c.501G>A (GNAS)	NP_057676.1:p.Lys167=
NM_016592.3:c.501G>A (GNAS)	NP_057676.1:p.Lys167=
NR_002785.2:n.819+1330C>T (GNAS-AS1)
XM_017027821.1:c.501G>A (GNAS)	XP_016883310.1:p.Lys167=
XM_017027822.1:c.501G>A (GNAS)	XP_016883311.1:p.Lys167=
XM_024451872.1:c.-237G>A (GNAS)	XP_024307640.1:n.-237G>A
NM_016592.4:c.501G>A (GNAS)	NP_057676.1:p.Lys167=
NM_016592.5:c.501G>A (GNAS) MANE Plus Clinical	NP_057676.1:p.Lys167=