Canonical Allele Identifier: CA8064027

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1122196
• ClinVar RCV Id: RCV001452735
• dbSNP Id: rs773032912
• ExAC: 16:56388809 C / T
• gnomAD v2: 16-56388809-C-T
• gnomAD v4: 16-56354897-C-T
• MyVariant Identifiers: chr16:g.56388809C>T (hg19) ; chr16:g.56354897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354897C>T , CM000678.2:g.56354897C>T	GRCh38
NC_000016.9:g.56388809C>T , CM000678.1:g.56388809C>T	GRCh37
NC_000016.8:g.54946310C>T	NCBI36
NG_042800.1:g.168559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.909C>T MANE Select	ENSP00000262493.6:p.Tyr303=
ENST00000562316.6:c.545-1206C>T	ENSP00000457238.2:n.545-1206C>T
ENST00000564727.2:c.213C>T	ENSP00000454971.2:p.Tyr71=
ENST00000568375.2:c.147C>T
ENST00000638185.1:n.1124C>T
ENST00000638210.1:n.1209C>T
ENST00000638705.1:c.909C>T	ENSP00000491223.1:p.Tyr303=
ENST00000638836.1:n.819C>T
ENST00000639055.1:n.1630C>T
ENST00000639251.1:n.810C>T
ENST00000639268.1:c.544C>T
ENST00000639341.1:c.434C>T
ENST00000639770.1:c.947C>T	ENSP00000491999.1:n.947C>T
ENST00000640390.1:n.839C>T
ENST00000640469.1:c.273C>T	ENSP00000491875.1:p.Tyr91=
ENST00000640560.1:n.685C>T
ENST00000640893.1:c.*307C>T	ENSP00000492677.1:n.*307C>T
ENST00000262493.10:c.909C>T	ENSP00000262493.6:p.Tyr303=
ENST00000564727.1:c.129C>T	ENSP00000454971.1:p.Tyr43=
ENST00000568375.1:n.147C>T
NM_020988.2:c.909C>T	NP_066268.1:p.Tyr303=
XM_011523003.1:c.783C>T	XP_011521305.1:p.Tyr261=
XM_011523003.3:c.783C>T	XP_011521305.1:p.Tyr261=
NM_020988.3:c.909C>T MANE Select	NP_066268.1:p.Tyr303=