Canonical Allele Identifier: CA395954866

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385416T>G (hg19) ; chr16:g.56351504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351504T>G , CM000678.2:g.56351504T>G	GRCh38
NC_000016.9:g.56385416T>G , CM000678.1:g.56385416T>G	GRCh37
NC_000016.8:g.54942917T>G	NCBI36
NG_042800.1:g.165166T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.844T>G MANE Select	ENSP00000262493.6:p.Ser282Ala
ENST00000562316.6:c.511T>G	ENSP00000457238.2:p.Ser171Ala
ENST00000564727.2:c.148T>G	ENSP00000454971.2:p.Ser50Ala
ENST00000568375.2:c.116-3362T>G
ENST00000638185.1:n.1059T>G
ENST00000638210.1:n.1144T>G
ENST00000638705.1:c.844T>G	ENSP00000491223.1:p.Ser282Ala
ENST00000638836.1:n.754T>G
ENST00000639055.1:n.1565T>G
ENST00000639251.1:n.745T>G
ENST00000639268.1:c.479T>G
ENST00000639341.1:c.369T>G
ENST00000639770.1:c.882T>G	ENSP00000491999.1:n.882T>G
ENST00000640390.1:n.774T>G
ENST00000640469.1:c.208T>G	ENSP00000491875.1:p.Ser70Ala
ENST00000640560.1:n.620T>G
ENST00000640893.1:c.*242T>G	ENSP00000492677.1:n.*242T>G
ENST00000262493.10:c.844T>G	ENSP00000262493.6:p.Ser282Ala
ENST00000564727.1:c.64T>G	ENSP00000454971.1:p.Ser22Ala
ENST00000568375.1:n.116-3362T>G
NM_020988.2:c.844T>G	NP_066268.1:p.Ser282Ala
XM_011523003.1:c.718T>G	XP_011521305.1:p.Ser240Ala
XM_011523003.3:c.718T>G	XP_011521305.1:p.Ser240Ala
NM_020988.3:c.844T>G MANE Select	NP_066268.1:p.Ser282Ala