Canonical Allele Identifier: CA395954805

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385391T>G (hg19) ; chr16:g.56351479T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351479T>G , CM000678.2:g.56351479T>G	GRCh38
NC_000016.9:g.56385391T>G , CM000678.1:g.56385391T>G	GRCh37
NC_000016.8:g.54942892T>G	NCBI36
NG_042800.1:g.165141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.819T>G MANE Select	ENSP00000262493.6:p.Asp273Glu
ENST00000562316.6:c.486T>G	ENSP00000457238.2:p.Asp162Glu
ENST00000564727.2:c.123T>G	ENSP00000454971.2:p.Asp41Glu
ENST00000568375.2:c.116-3387T>G
ENST00000638185.1:n.1034T>G
ENST00000638210.1:n.1119T>G
ENST00000638705.1:c.819T>G	ENSP00000491223.1:p.Asp273Glu
ENST00000638836.1:n.729T>G
ENST00000639055.1:n.1540T>G
ENST00000639251.1:n.720T>G
ENST00000639268.1:c.454T>G
ENST00000639341.1:c.344T>G
ENST00000639770.1:c.857T>G	ENSP00000491999.1:n.857T>G
ENST00000640390.1:n.749T>G
ENST00000640469.1:c.183T>G	ENSP00000491875.1:p.Asp61Glu
ENST00000640560.1:n.595T>G
ENST00000640893.1:c.*217T>G	ENSP00000492677.1:n.*217T>G
ENST00000262493.10:c.819T>G	ENSP00000262493.6:p.Asp273Glu
ENST00000564727.1:c.39T>G	ENSP00000454971.1:p.Asp13Glu
ENST00000568375.1:n.116-3387T>G
NM_020988.2:c.819T>G	NP_066268.1:p.Asp273Glu
XM_011523003.1:c.693T>G	XP_011521305.1:p.Asp231Glu
XM_011523003.3:c.693T>G	XP_011521305.1:p.Asp231Glu
NM_020988.3:c.819T>G MANE Select	NP_066268.1:p.Asp273Glu