Canonical Allele Identifier: CA395952281

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370707A>T (hg19) ; chr16:g.56336795A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336795A>T , CM000678.2:g.56336795A>T	GRCh38
NC_000016.9:g.56370707A>T , CM000678.1:g.56370707A>T	GRCh37
NC_000016.8:g.54928208A>T	NCBI36
NG_042800.1:g.150457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.658A>T	ENSP00000262494.7:p.Thr220Ser
ENST00000262493.12:c.658A>T MANE Select	ENSP00000262493.6:p.Thr220Ser
ENST00000262494.12:c.658A>T	ENSP00000262494.7:p.Thr220Ser
ENST00000562316.6:c.325A>T	ENSP00000457238.2:p.Thr109Ser
ENST00000568375.2:c.50A>T
ENST00000638185.1:n.873A>T
ENST00000638210.1:n.958A>T
ENST00000638705.1:c.658A>T	ENSP00000491223.1:p.Thr220Ser
ENST00000638836.1:n.568A>T
ENST00000639055.1:n.1379A>T
ENST00000639251.1:n.559A>T
ENST00000639268.1:c.293A>T
ENST00000639341.1:c.183A>T
ENST00000639770.1:c.696A>T	ENSP00000491999.1:n.696A>T
ENST00000640390.1:n.588A>T
ENST00000640469.1:c.22A>T	ENSP00000491875.1:p.Thr8Ser
ENST00000640560.1:n.434A>T
ENST00000640893.1:c.*56A>T	ENSP00000492677.1:n.*56A>T
ENST00000262493.10:c.658A>T	ENSP00000262493.6:p.Thr220Ser
ENST00000262494.11:c.658A>T	ENSP00000262494.7:p.Thr220Ser
ENST00000568375.1:n.50A>T
NM_020988.2:c.658A>T	NP_066268.1:p.Thr220Ser
NM_138736.2:c.658A>T	NP_620073.2:p.Thr220Ser
XM_011523003.1:c.532A>T	XP_011521305.1:p.Thr178Ser
XM_011523003.3:c.532A>T	XP_011521305.1:p.Thr178Ser
NM_020988.3:c.658A>T MANE Select	NP_066268.1:p.Thr220Ser
NM_138736.3:c.658A>T	NP_620073.2:p.Thr220Ser