Canonical Allele Identifier: CA8064026

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1160705
• ClinVar RCV Id: RCV001504910
• dbSNP Id: rs543764725
• ExAC: 16:56388803 C / T
• gnomAD v2: 16-56388803-C-T
• gnomAD v3: 16-56354891-C-T
• gnomAD v4: 16-56354891-C-T
• MyVariant Identifiers: chr16:g.56388803C>T (hg19) ; chr16:g.56354891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354891C>T , CM000678.2:g.56354891C>T	GRCh38
NC_000016.9:g.56388803C>T , CM000678.1:g.56388803C>T	GRCh37
NC_000016.8:g.54946304C>T	NCBI36
NG_042800.1:g.168553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.903C>T MANE Select	ENSP00000262493.6:p.Ala301=
ENST00000562316.6:c.545-1212C>T	ENSP00000457238.2:n.545-1212C>T
ENST00000564727.2:c.207C>T	ENSP00000454971.2:p.Ala69=
ENST00000568375.2:c.141C>T
ENST00000638185.1:n.1118C>T
ENST00000638210.1:n.1203C>T
ENST00000638705.1:c.903C>T	ENSP00000491223.1:p.Ala301=
ENST00000638836.1:n.813C>T
ENST00000639055.1:n.1624C>T
ENST00000639251.1:n.804C>T
ENST00000639268.1:c.538C>T
ENST00000639341.1:c.428C>T
ENST00000639770.1:c.941C>T	ENSP00000491999.1:n.941C>T
ENST00000640390.1:n.833C>T
ENST00000640469.1:c.267C>T	ENSP00000491875.1:p.Ala89=
ENST00000640560.1:n.679C>T
ENST00000640893.1:c.*301C>T	ENSP00000492677.1:n.*301C>T
ENST00000262493.10:c.903C>T	ENSP00000262493.6:p.Ala301=
ENST00000564727.1:c.123C>T	ENSP00000454971.1:p.Ala41=
ENST00000568375.1:n.141C>T
NM_020988.2:c.903C>T	NP_066268.1:p.Ala301=
XM_011523003.1:c.777C>T	XP_011521305.1:p.Ala259=
XM_011523003.3:c.777C>T	XP_011521305.1:p.Ala259=
NM_020988.3:c.903C>T MANE Select	NP_066268.1:p.Ala301=