Canonical Allele Identifier: CA281426800

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2972593
• ClinVar RCV Id: RCV003837703
• dbSNP Id: rs774947928
• gnomAD v3: 16-56334762-C-G
• gnomAD v4: 16-56334762-C-G
• MyVariant Identifiers: chr16:g.56368674C>G (hg19) ; chr16:g.56334762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334762C>G , CM000678.2:g.56334762C>G	GRCh38
NC_000016.9:g.56368674C>G , CM000678.1:g.56368674C>G	GRCh37
NC_000016.8:g.54926175C>G	NCBI36
NG_042800.1:g.148424C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.498C>G	ENSP00000262494.7:p.Ala166=
ENST00000262493.12:c.498C>G MANE Select	ENSP00000262493.6:p.Ala166=
ENST00000262494.12:c.498C>G	ENSP00000262494.7:p.Ala166=
ENST00000562316.6:c.165C>G	ENSP00000457238.2:p.Ala55=
ENST00000638185.1:n.713C>G
ENST00000638210.1:n.798C>G
ENST00000638705.1:c.498C>G	ENSP00000491223.1:p.Ala166=
ENST00000638836.1:n.408C>G
ENST00000639055.1:n.1219C>G
ENST00000639251.1:n.399C>G
ENST00000639268.1:c.229-1969C>G
ENST00000639341.1:c.23C>G
ENST00000639770.1:c.536C>G	ENSP00000491999.1:n.536C>G
ENST00000640390.1:n.428C>G
ENST00000640893.1:c.337C>G	ENSP00000492677.1:p.Arg113Gly
ENST00000262493.10:c.498C>G	ENSP00000262493.6:p.Ala166=
ENST00000262494.11:c.498C>G	ENSP00000262494.7:p.Ala166=
ENST00000562316.5:c.237C>G	ENSP00000457238.1:p.Ala79=
ENST00000563440.1:c.237C>G	ENSP00000455774.1:p.Ala79=
ENST00000565363.5:c.372C>G	ENSP00000454728.1:p.Ala124=
NM_020988.2:c.498C>G	NP_066268.1:p.Ala166=
NM_138736.2:c.498C>G	NP_620073.2:p.Ala166=
XM_011523003.1:c.372C>G	XP_011521305.1:p.Ala124=
XM_011523003.3:c.372C>G	XP_011521305.1:p.Ala124=
NM_020988.3:c.498C>G MANE Select	NP_066268.1:p.Ala166=
NM_138736.3:c.498C>G	NP_620073.2:p.Ala166=