Canonical Allele Identifier: CA2633321917

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351431-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351431C>T , CM000678.2:g.56351431C>T	GRCh38
NC_000016.9:g.56385343C>T , CM000678.1:g.56385343C>T	GRCh37
NC_000016.8:g.54942844C>T	NCBI36
NG_042800.1:g.165093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.771C>T MANE Select	ENSP00000262493.6:p.Asn257=
ENST00000562316.6:c.438C>T	ENSP00000457238.2:p.Asn146=
ENST00000564727.2:c.75C>T	ENSP00000454971.2:p.Asn25=
ENST00000568375.2:c.116-3435C>T
ENST00000638185.1:n.986C>T
ENST00000638210.1:n.1071C>T
ENST00000638705.1:c.771C>T	ENSP00000491223.1:p.Asn257=
ENST00000638836.1:n.681C>T
ENST00000639055.1:n.1492C>T
ENST00000639251.1:n.672C>T
ENST00000639268.1:c.406C>T
ENST00000639341.1:c.296C>T
ENST00000639770.1:c.809C>T	ENSP00000491999.1:n.809C>T
ENST00000640390.1:n.701C>T
ENST00000640469.1:c.135C>T	ENSP00000491875.1:p.Asn45=
ENST00000640560.1:n.547C>T
ENST00000640893.1:c.*169C>T	ENSP00000492677.1:n.*169C>T
ENST00000262493.10:c.771C>T	ENSP00000262493.6:p.Asn257=
ENST00000568375.1:n.116-3435C>T
NM_020988.2:c.771C>T	NP_066268.1:p.Asn257=
XM_011523003.1:c.645C>T	XP_011521305.1:p.Asn215=
XM_011523003.3:c.645C>T	XP_011521305.1:p.Asn215=
NM_020988.3:c.771C>T MANE Select	NP_066268.1:p.Asn257=