Canonical Allele Identifier: CA395952399

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370760A>T (hg19) ; chr16:g.56336848A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336848A>T , CM000678.2:g.56336848A>T	GRCh38
NC_000016.9:g.56370760A>T , CM000678.1:g.56370760A>T	GRCh37
NC_000016.8:g.54928261A>T	NCBI36
NG_042800.1:g.150510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.711A>T	ENSP00000262494.7:p.Glu237Asp
ENST00000262493.12:c.711A>T MANE Select	ENSP00000262493.6:p.Glu237Asp
ENST00000262494.12:c.711A>T	ENSP00000262494.7:p.Glu237Asp
ENST00000562316.6:c.378A>T	ENSP00000457238.2:p.Glu126Asp
ENST00000564727.2:c.15A>T	ENSP00000454971.2:p.Glu5Asp
ENST00000568375.2:c.103A>T
ENST00000638185.1:n.926A>T
ENST00000638210.1:n.1011A>T
ENST00000638705.1:c.711A>T	ENSP00000491223.1:p.Glu237Asp
ENST00000638836.1:n.621A>T
ENST00000639055.1:n.1432A>T
ENST00000639251.1:n.612A>T
ENST00000639268.1:c.346A>T
ENST00000639341.1:c.236A>T
ENST00000639770.1:c.749A>T	ENSP00000491999.1:n.749A>T
ENST00000640390.1:n.641A>T
ENST00000640469.1:c.75A>T	ENSP00000491875.1:p.Glu25Asp
ENST00000640560.1:n.487A>T
ENST00000640893.1:c.*109A>T	ENSP00000492677.1:n.*109A>T
ENST00000262493.10:c.711A>T	ENSP00000262493.6:p.Glu237Asp
ENST00000262494.11:c.711A>T	ENSP00000262494.7:p.Glu237Asp
ENST00000568375.1:n.103A>T
NM_020988.2:c.711A>T	NP_066268.1:p.Glu237Asp
NM_138736.2:c.711A>T	NP_620073.2:p.Glu237Asp
XM_011523003.1:c.585A>T	XP_011521305.1:p.Glu195Asp
XM_011523003.3:c.585A>T	XP_011521305.1:p.Glu195Asp
NM_020988.3:c.711A>T MANE Select	NP_066268.1:p.Glu237Asp
NM_138736.3:c.711A>T	NP_620073.2:p.Glu237Asp