Canonical Allele Identifier: CA395954645

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 964792
• ClinVar RCV Id: RCV001239089
• dbSNP Id: rs2037920339
• gnomAD v4: 16-56351414-G-A
• COSMIC: COSM281410
• MyVariant Identifiers: chr16:g.56385326G>A (hg19) ; chr16:g.56351414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351414G>A , CM000678.2:g.56351414G>A	GRCh38
NC_000016.9:g.56385326G>A , CM000678.1:g.56385326G>A	GRCh37
NC_000016.8:g.54942827G>A	NCBI36
NG_042800.1:g.165076G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.754G>A MANE Select	ENSP00000262493.6:p.Asp252Asn
ENST00000562316.6:c.421G>A	ENSP00000457238.2:p.Asp141Asn
ENST00000564727.2:c.58G>A	ENSP00000454971.2:p.Asp20Asn
ENST00000568375.2:c.116-3452G>A
ENST00000638185.1:n.969G>A
ENST00000638210.1:n.1054G>A
ENST00000638705.1:c.754G>A	ENSP00000491223.1:p.Asp252Asn
ENST00000638836.1:n.664G>A
ENST00000639055.1:n.1475G>A
ENST00000639251.1:n.655G>A
ENST00000639268.1:c.389G>A
ENST00000639341.1:c.279G>A
ENST00000639770.1:c.792G>A	ENSP00000491999.1:n.792G>A
ENST00000640390.1:n.684G>A
ENST00000640469.1:c.118G>A	ENSP00000491875.1:p.Asp40Asn
ENST00000640560.1:n.530G>A
ENST00000640893.1:c.*152G>A	ENSP00000492677.1:n.*152G>A
ENST00000262493.10:c.754G>A	ENSP00000262493.6:p.Asp252Asn
ENST00000568375.1:n.116-3452G>A
NM_020988.2:c.754G>A	NP_066268.1:p.Asp252Asn
XM_011523003.1:c.628G>A	XP_011521305.1:p.Asp210Asn
XM_011523003.3:c.628G>A	XP_011521305.1:p.Asp210Asn
NM_020988.3:c.754G>A MANE Select	NP_066268.1:p.Asp252Asn