Canonical Allele Identifier: CA8063996

Gene: GNAO1

Linked Data

• dbSNP Id: rs758779535
• ExAC: 16:56385385 G / A
• gnomAD v2: 16-56385385-G-A
• MyVariant Identifiers: chr16:g.56385385G>A (hg19) ; chr16:g.56351473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351473G>A , CM000678.2:g.56351473G>A	GRCh38
NC_000016.9:g.56385385G>A , CM000678.1:g.56385385G>A	GRCh37
NC_000016.8:g.54942886G>A	NCBI36
NG_042800.1:g.165135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.813G>A MANE Select	ENSP00000262493.6:p.Lys271=
ENST00000562316.6:c.480G>A	ENSP00000457238.2:p.Lys160=
ENST00000564727.2:c.117G>A	ENSP00000454971.2:p.Lys39=
ENST00000568375.2:c.116-3393G>A
ENST00000638185.1:n.1028G>A
ENST00000638210.1:n.1113G>A
ENST00000638705.1:c.813G>A	ENSP00000491223.1:p.Lys271=
ENST00000638836.1:n.723G>A
ENST00000639055.1:n.1534G>A
ENST00000639251.1:n.714G>A
ENST00000639268.1:c.448G>A
ENST00000639341.1:c.338G>A
ENST00000639770.1:c.851G>A	ENSP00000491999.1:n.851G>A
ENST00000640390.1:n.743G>A
ENST00000640469.1:c.177G>A	ENSP00000491875.1:p.Lys59=
ENST00000640560.1:n.589G>A
ENST00000640893.1:c.*211G>A	ENSP00000492677.1:n.*211G>A
ENST00000262493.10:c.813G>A	ENSP00000262493.6:p.Lys271=
ENST00000564727.1:c.33G>A	ENSP00000454971.1:p.Lys11=
ENST00000568375.1:n.116-3393G>A
NM_020988.2:c.813G>A	NP_066268.1:p.Lys271=
XM_011523003.1:c.687G>A	XP_011521305.1:p.Lys229=
XM_011523003.3:c.687G>A	XP_011521305.1:p.Lys229=
NM_020988.3:c.813G>A MANE Select	NP_066268.1:p.Lys271=