Canonical Allele Identifier: CA395954669

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2704742
• ClinVar RCV Id: RCV003589802
• MyVariant Identifiers: chr16:g.56385336G>A (hg19) ; chr16:g.56351424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351424G>A , CM000678.2:g.56351424G>A	GRCh38
NC_000016.9:g.56385336G>A , CM000678.1:g.56385336G>A	GRCh37
NC_000016.8:g.54942837G>A	NCBI36
NG_042800.1:g.165086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.764G>A MANE Select	ENSP00000262493.6:p.Cys255Tyr
ENST00000562316.6:c.431G>A	ENSP00000457238.2:p.Cys144Tyr
ENST00000564727.2:c.68G>A	ENSP00000454971.2:p.Cys23Tyr
ENST00000568375.2:c.116-3442G>A
ENST00000638185.1:n.979G>A
ENST00000638210.1:n.1064G>A
ENST00000638705.1:c.764G>A	ENSP00000491223.1:p.Cys255Tyr
ENST00000638836.1:n.674G>A
ENST00000639055.1:n.1485G>A
ENST00000639251.1:n.665G>A
ENST00000639268.1:c.399G>A
ENST00000639341.1:c.289G>A
ENST00000639770.1:c.802G>A	ENSP00000491999.1:n.802G>A
ENST00000640390.1:n.694G>A
ENST00000640469.1:c.128G>A	ENSP00000491875.1:p.Cys43Tyr
ENST00000640560.1:n.540G>A
ENST00000640893.1:c.*162G>A	ENSP00000492677.1:n.*162G>A
ENST00000262493.10:c.764G>A	ENSP00000262493.6:p.Cys255Tyr
ENST00000568375.1:n.116-3442G>A
NM_020988.2:c.764G>A	NP_066268.1:p.Cys255Tyr
XM_011523003.1:c.638G>A	XP_011521305.1:p.Cys213Tyr
XM_011523003.3:c.638G>A	XP_011521305.1:p.Cys213Tyr
NM_020988.3:c.764G>A MANE Select	NP_066268.1:p.Cys255Tyr