Canonical Allele Identifier: CA395952346

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037744620
• gnomAD v4: 16-56336825-G-A
• MyVariant Identifiers: chr16:g.56370737G>A (hg19) ; chr16:g.56336825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336825G>A , CM000678.2:g.56336825G>A	GRCh38
NC_000016.9:g.56370737G>A , CM000678.1:g.56370737G>A	GRCh37
NC_000016.8:g.54928238G>A	NCBI36
NG_042800.1:g.150487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.688G>A	ENSP00000262494.7:p.Gly230Ser
ENST00000262493.12:c.688G>A MANE Select	ENSP00000262493.6:p.Gly230Ser
ENST00000262494.12:c.688G>A	ENSP00000262494.7:p.Gly230Ser
ENST00000562316.6:c.355G>A	ENSP00000457238.2:p.Gly119Ser
ENST00000568375.2:c.80G>A
ENST00000638185.1:n.903G>A
ENST00000638210.1:n.988G>A
ENST00000638705.1:c.688G>A	ENSP00000491223.1:p.Gly230Ser
ENST00000638836.1:n.598G>A
ENST00000639055.1:n.1409G>A
ENST00000639251.1:n.589G>A
ENST00000639268.1:c.323G>A
ENST00000639341.1:c.213G>A
ENST00000639770.1:c.726G>A	ENSP00000491999.1:n.726G>A
ENST00000640390.1:n.618G>A
ENST00000640469.1:c.52G>A	ENSP00000491875.1:p.Gly18Ser
ENST00000640560.1:n.464G>A
ENST00000640893.1:c.*86G>A	ENSP00000492677.1:n.*86G>A
ENST00000262493.10:c.688G>A	ENSP00000262493.6:p.Gly230Ser
ENST00000262494.11:c.688G>A	ENSP00000262494.7:p.Gly230Ser
ENST00000568375.1:n.80G>A
NM_020988.2:c.688G>A	NP_066268.1:p.Gly230Ser
NM_138736.2:c.688G>A	NP_620073.2:p.Gly230Ser
XM_011523003.1:c.562G>A	XP_011521305.1:p.Gly188Ser
XM_011523003.3:c.562G>A	XP_011521305.1:p.Gly188Ser
NM_020988.3:c.688G>A MANE Select	NP_066268.1:p.Gly230Ser
NM_138736.3:c.688G>A	NP_620073.2:p.Gly230Ser