Canonical Allele Identifier: CA16043691
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374381
dbSNP Id: rs1057518678

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56336829A>G , CM000678.2:g.56336829A>G GRCh38
NC_000016.9:g.56370741A>G , CM000678.1:g.56370741A>G GRCh37
NC_000016.8:g.54928242A>G NCBI36
NG_042800.1:g.150491A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262494.13:c.692A>G ENSP00000262494.7:p.Tyr231Cys
ENST00000262493.12:c.692A>G MANE Select ENSP00000262493.6:p.Tyr231Cys
ENST00000262494.12:c.692A>G ENSP00000262494.7:p.Tyr231Cys
ENST00000562316.6:c.359A>G ENSP00000457238.2:p.Tyr120Cys
ENST00000568375.2:c.84A>G
ENST00000638185.1:n.907A>G
ENST00000638210.1:n.992A>G
ENST00000638705.1:c.692A>G ENSP00000491223.1:p.Tyr231Cys
ENST00000638836.1:n.602A>G
ENST00000639055.1:n.1413A>G
ENST00000639251.1:n.593A>G
ENST00000639268.1:c.327A>G
ENST00000639341.1:c.217A>G
ENST00000639770.1:c.730A>G ENSP00000491999.1:n.730A>G
ENST00000640390.1:n.622A>G
ENST00000640469.1:c.56A>G ENSP00000491875.1:p.Tyr19Cys
ENST00000640560.1:n.468A>G
ENST00000640893.1:c.*90A>G ENSP00000492677.1:n.*90A>G
ENST00000262493.10:c.692A>G ENSP00000262493.6:p.Tyr231Cys
ENST00000262494.11:c.692A>G ENSP00000262494.7:p.Tyr231Cys
ENST00000568375.1:n.84A>G
NM_020988.2:c.692A>G NP_066268.1:p.Tyr231Cys
NM_138736.2:c.692A>G NP_620073.2:p.Tyr231Cys
XM_011523003.1:c.566A>G XP_011521305.1:p.Tyr189Cys
XM_011523003.3:c.566A>G XP_011521305.1:p.Tyr189Cys
NM_020988.3:c.692A>G MANE Select NP_066268.1:p.Tyr231Cys
NM_138736.3:c.692A>G NP_620073.2:p.Tyr231Cys