Canonical Allele Identifier: CA2575998031

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2989469
• ClinVar RCV Id: RCV003849620
• gnomAD v4: 16-56336711-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336711C>T , CM000678.2:g.56336711C>T	GRCh38
NC_000016.9:g.56370623C>T , CM000678.1:g.56370623C>T	GRCh37
NC_000016.8:g.54928124C>T	NCBI36
NG_042800.1:g.150373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.594-20C>T	ENSP00000262494.7:n.594-20C>T
ENST00000262493.12:c.594-20C>T MANE Select	ENSP00000262493.6:n.594-20C>T
ENST00000262494.12:c.594-20C>T	ENSP00000262494.7:n.594-20C>T
ENST00000562316.6:c.261-20C>T	ENSP00000457238.2:n.261-20C>T
ENST00000638185.1:n.809-20C>T
ENST00000638210.1:n.894-20C>T
ENST00000638705.1:c.594-20C>T	ENSP00000491223.1:n.594-20C>T
ENST00000638836.1:n.504-20C>T
ENST00000639055.1:n.1315-20C>T
ENST00000639251.1:n.495-20C>T
ENST00000639268.1:c.229-20C>T
ENST00000639341.1:c.119-20C>T
ENST00000639770.1:c.632-20C>T	ENSP00000491999.1:n.632-20C>T
ENST00000640390.1:n.524-20C>T
ENST00000640560.1:n.350C>T
ENST00000640893.1:c.433-20C>T	ENSP00000492677.1:n.433-20C>T
ENST00000262493.10:c.594-20C>T	ENSP00000262493.6:n.594-20C>T
ENST00000262494.11:c.594-20C>T	ENSP00000262494.7:n.594-20C>T
NM_020988.2:c.594-20C>T	NP_066268.1:n.594-20C>T
NM_138736.2:c.594-20C>T	NP_620073.2:n.594-20C>T
XM_011523003.1:c.468-20C>T	XP_011521305.1:n.468-20C>T
XM_011523003.3:c.468-20C>T	XP_011521305.1:n.468-20C>T
NM_020988.3:c.594-20C>T MANE Select	NP_066268.1:n.594-20C>T
NM_138736.3:c.594-20C>T	NP_620073.2:n.594-20C>T