Canonical Allele Identifier: CA2697555828

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2726302
• ClinVar RCV Id: RCV003588145

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351416C>T , CM000678.2:g.56351416C>T	GRCh38
NC_000016.9:g.56385328C>T , CM000678.1:g.56385328C>T	GRCh37
NC_000016.8:g.54942829C>T	NCBI36
NG_042800.1:g.165078C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.756C>T MANE Select	ENSP00000262493.6:p.Asp252=
ENST00000562316.6:c.423C>T	ENSP00000457238.2:p.Asp141=
ENST00000564727.2:c.60C>T	ENSP00000454971.2:p.Asp20=
ENST00000568375.2:c.116-3450C>T
ENST00000638185.1:n.971C>T
ENST00000638210.1:n.1056C>T
ENST00000638705.1:c.756C>T	ENSP00000491223.1:p.Asp252=
ENST00000638836.1:n.666C>T
ENST00000639055.1:n.1477C>T
ENST00000639251.1:n.657C>T
ENST00000639268.1:c.391C>T
ENST00000639341.1:c.281C>T
ENST00000639770.1:c.794C>T	ENSP00000491999.1:n.794C>T
ENST00000640390.1:n.686C>T
ENST00000640469.1:c.120C>T	ENSP00000491875.1:p.Asp40=
ENST00000640560.1:n.532C>T
ENST00000640893.1:c.*154C>T	ENSP00000492677.1:n.*154C>T
ENST00000262493.10:c.756C>T	ENSP00000262493.6:p.Asp252=
ENST00000568375.1:n.116-3450C>T
NM_020988.2:c.756C>T	NP_066268.1:p.Asp252=
XM_011523003.1:c.630C>T	XP_011521305.1:p.Asp210=
XM_011523003.3:c.630C>T	XP_011521305.1:p.Asp210=
NM_020988.3:c.756C>T MANE Select	NP_066268.1:p.Asp252=