Canonical Allele Identifier: CA395954635

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385321T>A (hg19) ; chr16:g.56351409T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351409T>A , CM000678.2:g.56351409T>A	GRCh38
NC_000016.9:g.56385321T>A , CM000678.1:g.56385321T>A	GRCh37
NC_000016.8:g.54942822T>A	NCBI36
NG_042800.1:g.165071T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.749T>A MANE Select	ENSP00000262493.6:p.Leu250His
ENST00000562316.6:c.416T>A	ENSP00000457238.2:p.Leu139His
ENST00000564727.2:c.53T>A	ENSP00000454971.2:p.Leu18His
ENST00000568375.2:c.116-3457T>A
ENST00000638185.1:n.964T>A
ENST00000638210.1:n.1049T>A
ENST00000638705.1:c.749T>A	ENSP00000491223.1:p.Leu250His
ENST00000638836.1:n.659T>A
ENST00000639055.1:n.1470T>A
ENST00000639251.1:n.650T>A
ENST00000639268.1:c.384T>A
ENST00000639341.1:c.274T>A
ENST00000639770.1:c.787T>A	ENSP00000491999.1:n.787T>A
ENST00000640390.1:n.679T>A
ENST00000640469.1:c.113T>A	ENSP00000491875.1:p.Leu38His
ENST00000640560.1:n.525T>A
ENST00000640893.1:c.*147T>A	ENSP00000492677.1:n.*147T>A
ENST00000262493.10:c.749T>A	ENSP00000262493.6:p.Leu250His
ENST00000568375.1:n.116-3457T>A
NM_020988.2:c.749T>A	NP_066268.1:p.Leu250His
XM_011523003.1:c.623T>A	XP_011521305.1:p.Leu208His
XM_011523003.3:c.623T>A	XP_011521305.1:p.Leu208His
NM_020988.3:c.749T>A MANE Select	NP_066268.1:p.Leu250His