Canonical Allele Identifier: CA8063821

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2755617
• ClinVar RCV Id: RCV003590095
• dbSNP Id: rs548233212
• ExAC: 16:56370637 C / T
• gnomAD v2: 16-56370637-C-T
• gnomAD v3: 16-56336725-C-T
• gnomAD v4: 16-56336725-C-T
• MyVariant Identifiers: chr16:g.56370637C>T (hg19) ; chr16:g.56336725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336725C>T , CM000678.2:g.56336725C>T	GRCh38
NC_000016.9:g.56370637C>T , CM000678.1:g.56370637C>T	GRCh37
NC_000016.8:g.54928138C>T	NCBI36
NG_042800.1:g.150387C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.594-6C>T	ENSP00000262494.7:n.594-6C>T
ENST00000262493.12:c.594-6C>T MANE Select	ENSP00000262493.6:n.594-6C>T
ENST00000262494.12:c.594-6C>T	ENSP00000262494.7:n.594-6C>T
ENST00000562316.6:c.261-6C>T	ENSP00000457238.2:n.261-6C>T
ENST00000638185.1:n.809-6C>T
ENST00000638210.1:n.894-6C>T
ENST00000638705.1:c.594-6C>T	ENSP00000491223.1:n.594-6C>T
ENST00000638836.1:n.504-6C>T
ENST00000639055.1:n.1315-6C>T
ENST00000639251.1:n.495-6C>T
ENST00000639268.1:c.229-6C>T
ENST00000639341.1:c.119-6C>T
ENST00000639770.1:c.632-6C>T	ENSP00000491999.1:n.632-6C>T
ENST00000640390.1:n.524-6C>T
ENST00000640560.1:n.364C>T
ENST00000640893.1:c.433-6C>T	ENSP00000492677.1:n.433-6C>T
ENST00000262493.10:c.594-6C>T	ENSP00000262493.6:n.594-6C>T
ENST00000262494.11:c.594-6C>T	ENSP00000262494.7:n.594-6C>T
NM_020988.2:c.594-6C>T	NP_066268.1:n.594-6C>T
NM_138736.2:c.594-6C>T	NP_620073.2:n.594-6C>T
XM_011523003.1:c.468-6C>T	XP_011521305.1:n.468-6C>T
XM_011523003.3:c.468-6C>T	XP_011521305.1:n.468-6C>T
NM_020988.3:c.594-6C>T MANE Select	NP_066268.1:n.594-6C>T
NM_138736.3:c.594-6C>T	NP_620073.2:n.594-6C>T