Canonical Allele Identifier: CA395952163

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1319183
• ClinVar RCV Id: RCV003238503
• dbSNP Id: rs2143664859
• MyVariant Identifiers: chr16:g.56370657G>A (hg19) ; chr16:g.56336745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336745G>A , CM000678.2:g.56336745G>A	GRCh38
NC_000016.9:g.56370657G>A , CM000678.1:g.56370657G>A	GRCh37
NC_000016.8:g.54928158G>A	NCBI36
NG_042800.1:g.150407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.608G>A	ENSP00000262494.7:p.Gly203Glu
ENST00000262493.12:c.608G>A MANE Select	ENSP00000262493.6:p.Gly203Glu
ENST00000262494.12:c.608G>A	ENSP00000262494.7:p.Gly203Glu
ENST00000562316.6:c.275G>A	ENSP00000457238.2:p.Gly92Glu
ENST00000638185.1:n.823G>A
ENST00000638210.1:n.908G>A
ENST00000638705.1:c.608G>A	ENSP00000491223.1:p.Gly203Glu
ENST00000638836.1:n.518G>A
ENST00000639055.1:n.1329G>A
ENST00000639251.1:n.509G>A
ENST00000639268.1:c.243G>A
ENST00000639341.1:c.133G>A
ENST00000639770.1:c.646G>A	ENSP00000491999.1:n.646G>A
ENST00000640390.1:n.538G>A
ENST00000640560.1:n.384G>A
ENST00000640893.1:c.*6G>A	ENSP00000492677.1:n.*6G>A
ENST00000262493.10:c.608G>A	ENSP00000262493.6:p.Gly203Glu
ENST00000262494.11:c.608G>A	ENSP00000262494.7:p.Gly203Glu
NM_020988.2:c.608G>A	NP_066268.1:p.Gly203Glu
NM_138736.2:c.608G>A	NP_620073.2:p.Gly203Glu
XM_011523003.1:c.482G>A	XP_011521305.1:p.Gly161Glu
XM_011523003.3:c.482G>A	XP_011521305.1:p.Gly161Glu
NM_020988.3:c.608G>A MANE Select	NP_066268.1:p.Gly203Glu
NM_138736.3:c.608G>A	NP_620073.2:p.Gly203Glu