Canonical Allele Identifier: CA395951566

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368713G>T (hg19) ; chr16:g.56334801G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334801G>T , CM000678.2:g.56334801G>T	GRCh38
NC_000016.9:g.56368713G>T , CM000678.1:g.56368713G>T	GRCh37
NC_000016.8:g.54926214G>T	NCBI36
NG_042800.1:g.148463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.537G>T	ENSP00000262494.7:p.Arg179Ser
ENST00000262493.12:c.537G>T MANE Select	ENSP00000262493.6:p.Arg179Ser
ENST00000262494.12:c.537G>T	ENSP00000262494.7:p.Arg179Ser
ENST00000562316.6:c.204G>T	ENSP00000457238.2:p.Arg68Ser
ENST00000638185.1:n.752G>T
ENST00000638210.1:n.837G>T
ENST00000638705.1:c.537G>T	ENSP00000491223.1:p.Arg179Ser
ENST00000638836.1:n.447G>T
ENST00000639055.1:n.1258G>T
ENST00000639251.1:n.438G>T
ENST00000639268.1:c.229-1930G>T
ENST00000639341.1:c.62G>T
ENST00000639770.1:c.575G>T	ENSP00000491999.1:n.575G>T
ENST00000640390.1:n.467G>T
ENST00000640893.1:c.376G>T	ENSP00000492677.1:p.Gly126Cys
ENST00000262493.10:c.537G>T	ENSP00000262493.6:p.Arg179Ser
ENST00000262494.11:c.537G>T	ENSP00000262494.7:p.Arg179Ser
ENST00000562316.5:c.276G>T	ENSP00000457238.1:p.Arg92Ser
NM_020988.2:c.537G>T	NP_066268.1:p.Arg179Ser
NM_138736.2:c.537G>T	NP_620073.2:p.Arg179Ser
XM_011523003.1:c.411G>T	XP_011521305.1:p.Arg137Ser
XM_011523003.3:c.411G>T	XP_011521305.1:p.Arg137Ser
NM_020988.3:c.537G>T MANE Select	NP_066268.1:p.Arg179Ser
NM_138736.3:c.537G>T	NP_620073.2:p.Arg179Ser