Canonical Allele Identifier: CA395952187

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370668T>G (hg19) ; chr16:g.56336756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336756T>G , CM000678.2:g.56336756T>G	GRCh38
NC_000016.9:g.56370668T>G , CM000678.1:g.56370668T>G	GRCh37
NC_000016.8:g.54928169T>G	NCBI36
NG_042800.1:g.150418T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.619T>G	ENSP00000262494.7:p.Ser207Ala
ENST00000262493.12:c.619T>G MANE Select	ENSP00000262493.6:p.Ser207Ala
ENST00000262494.12:c.619T>G	ENSP00000262494.7:p.Ser207Ala
ENST00000562316.6:c.286T>G	ENSP00000457238.2:p.Ser96Ala
ENST00000568375.2:c.11T>G
ENST00000638185.1:n.834T>G
ENST00000638210.1:n.919T>G
ENST00000638705.1:c.619T>G	ENSP00000491223.1:p.Ser207Ala
ENST00000638836.1:n.529T>G
ENST00000639055.1:n.1340T>G
ENST00000639251.1:n.520T>G
ENST00000639268.1:c.254T>G
ENST00000639341.1:c.144T>G
ENST00000639770.1:c.657T>G	ENSP00000491999.1:n.657T>G
ENST00000640390.1:n.549T>G
ENST00000640560.1:n.395T>G
ENST00000640893.1:c.*17T>G	ENSP00000492677.1:n.*17T>G
ENST00000262493.10:c.619T>G	ENSP00000262493.6:p.Ser207Ala
ENST00000262494.11:c.619T>G	ENSP00000262494.7:p.Ser207Ala
ENST00000568375.1:n.11T>G
NM_020988.2:c.619T>G	NP_066268.1:p.Ser207Ala
NM_138736.2:c.619T>G	NP_620073.2:p.Ser207Ala
XM_011523003.1:c.493T>G	XP_011521305.1:p.Ser165Ala
XM_011523003.3:c.493T>G	XP_011521305.1:p.Ser165Ala
NM_020988.3:c.619T>G MANE Select	NP_066268.1:p.Ser207Ala
NM_138736.3:c.619T>G	NP_620073.2:p.Ser207Ala