Canonical Allele Identifier: CA495573505

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368711A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334799A>C , CM000678.2:g.56334799A>C	GRCh38
NC_000016.9:g.56368711A>C , CM000678.1:g.56368711A>C	GRCh37
NC_000016.8:g.54926212A>C	NCBI36
NG_042800.1:g.148461A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.535A>C	ENSP00000262494.7:p.Arg179=
ENST00000262493.12:c.535A>C MANE Select	ENSP00000262493.6:p.Arg179=
ENST00000262494.12:c.535A>C	ENSP00000262494.7:p.Arg179=
ENST00000562316.6:c.202A>C	ENSP00000457238.2:p.Arg68=
ENST00000638185.1:n.750A>C
ENST00000638210.1:n.835A>C
ENST00000638705.1:c.535A>C	ENSP00000491223.1:p.Arg179=
ENST00000638836.1:n.445A>C
ENST00000639055.1:n.1256A>C
ENST00000639251.1:n.436A>C
ENST00000639268.1:c.229-1932A>C
ENST00000639341.1:c.60A>C
ENST00000639770.1:c.573A>C	ENSP00000491999.1:n.573A>C
ENST00000640390.1:n.465A>C
ENST00000640893.1:c.374A>C	ENSP00000492677.1:p.Gln125Pro
ENST00000262493.10:c.535A>C	ENSP00000262493.6:p.Arg179=
ENST00000262494.11:c.535A>C	ENSP00000262494.7:p.Arg179=
ENST00000562316.5:c.274A>C	ENSP00000457238.1:p.Arg92=
NM_020988.2:c.535A>C	NP_066268.1:p.Arg179=
NM_138736.2:c.535A>C	NP_620073.2:p.Arg179=
XM_011523003.1:c.409A>C	XP_011521305.1:p.Arg137=
XM_011523003.3:c.409A>C	XP_011521305.1:p.Arg137=
NM_020988.3:c.535A>C MANE Select	NP_066268.1:p.Arg179=
NM_138736.3:c.535A>C	NP_620073.2:p.Arg179=