Canonical Allele Identifier: CA395954815

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385396T>A (hg19) ; chr16:g.56351484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351484T>A , CM000678.2:g.56351484T>A	GRCh38
NC_000016.9:g.56385396T>A , CM000678.1:g.56385396T>A	GRCh37
NC_000016.8:g.54942897T>A	NCBI36
NG_042800.1:g.165146T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.824T>A MANE Select	ENSP00000262493.6:p.Phe275Tyr
ENST00000562316.6:c.491T>A	ENSP00000457238.2:p.Phe164Tyr
ENST00000564727.2:c.128T>A	ENSP00000454971.2:p.Phe43Tyr
ENST00000568375.2:c.116-3382T>A
ENST00000638185.1:n.1039T>A
ENST00000638210.1:n.1124T>A
ENST00000638705.1:c.824T>A	ENSP00000491223.1:p.Phe275Tyr
ENST00000638836.1:n.734T>A
ENST00000639055.1:n.1545T>A
ENST00000639251.1:n.725T>A
ENST00000639268.1:c.459T>A
ENST00000639341.1:c.349T>A
ENST00000639770.1:c.862T>A	ENSP00000491999.1:n.862T>A
ENST00000640390.1:n.754T>A
ENST00000640469.1:c.188T>A	ENSP00000491875.1:p.Phe63Tyr
ENST00000640560.1:n.600T>A
ENST00000640893.1:c.*222T>A	ENSP00000492677.1:n.*222T>A
ENST00000262493.10:c.824T>A	ENSP00000262493.6:p.Phe275Tyr
ENST00000564727.1:c.44T>A	ENSP00000454971.1:p.Phe15Tyr
ENST00000568375.1:n.116-3382T>A
NM_020988.2:c.824T>A	NP_066268.1:p.Phe275Tyr
XM_011523003.1:c.698T>A	XP_011521305.1:p.Phe233Tyr
XM_011523003.3:c.698T>A	XP_011521305.1:p.Phe233Tyr
NM_020988.3:c.824T>A MANE Select	NP_066268.1:p.Phe275Tyr