Canonical Allele Identifier: CA206640
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211088
dbSNP Id: rs797045599

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56336817C>T , CM000678.2:g.56336817C>T GRCh38
NC_000016.9:g.56370729C>T , CM000678.1:g.56370729C>T GRCh37
NC_000016.8:g.54928230C>T NCBI36
NG_042800.1:g.150479C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262494.13:c.680C>T ENSP00000262494.7:p.Ala227Val
ENST00000262493.12:c.680C>T MANE Select ENSP00000262493.6:p.Ala227Val
ENST00000262494.12:c.680C>T ENSP00000262494.7:p.Ala227Val
ENST00000562316.6:c.347C>T ENSP00000457238.2:p.Ala116Val
ENST00000568375.2:c.72C>T
ENST00000638185.1:n.895C>T
ENST00000638210.1:n.980C>T
ENST00000638705.1:c.680C>T ENSP00000491223.1:p.Ala227Val
ENST00000638836.1:n.590C>T
ENST00000639055.1:n.1401C>T
ENST00000639251.1:n.581C>T
ENST00000639268.1:c.315C>T
ENST00000639341.1:c.205C>T
ENST00000639770.1:c.718C>T ENSP00000491999.1:n.718C>T
ENST00000640390.1:n.610C>T
ENST00000640469.1:c.44C>T ENSP00000491875.1:p.Ala15Val
ENST00000640560.1:n.456C>T
ENST00000640893.1:c.*78C>T ENSP00000492677.1:n.*78C>T
ENST00000262493.10:c.680C>T ENSP00000262493.6:p.Ala227Val
ENST00000262494.11:c.680C>T ENSP00000262494.7:p.Ala227Val
ENST00000568375.1:n.72C>T
NM_020988.2:c.680C>T NP_066268.1:p.Ala227Val
NM_138736.2:c.680C>T NP_620073.2:p.Ala227Val
XM_011523003.1:c.554C>T XP_011521305.1:p.Ala185Val
XM_011523003.3:c.554C>T XP_011521305.1:p.Ala185Val
NM_020988.3:c.680C>T MANE Select NP_066268.1:p.Ala227Val
NM_138736.3:c.680C>T NP_620073.2:p.Ala227Val