Canonical Allele Identifier: CA395952168

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1685853
• ClinVar RCV Id: RCV002250020
• dbSNP Id: rs2143664861
• MyVariant Identifiers: chr16:g.56370659G>C (hg19) ; chr16:g.56336747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336747G>C , CM000678.2:g.56336747G>C	GRCh38
NC_000016.9:g.56370659G>C , CM000678.1:g.56370659G>C	GRCh37
NC_000016.8:g.54928160G>C	NCBI36
NG_042800.1:g.150409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.610G>C	ENSP00000262494.7:p.Gly204Arg
ENST00000262493.12:c.610G>C MANE Select	ENSP00000262493.6:p.Gly204Arg
ENST00000262494.12:c.610G>C	ENSP00000262494.7:p.Gly204Arg
ENST00000562316.6:c.277G>C	ENSP00000457238.2:p.Gly93Arg
ENST00000568375.2:c.2G>C
ENST00000638185.1:n.825G>C
ENST00000638210.1:n.910G>C
ENST00000638705.1:c.610G>C	ENSP00000491223.1:p.Gly204Arg
ENST00000638836.1:n.520G>C
ENST00000639055.1:n.1331G>C
ENST00000639251.1:n.511G>C
ENST00000639268.1:c.245G>C
ENST00000639341.1:c.135G>C
ENST00000639770.1:c.648G>C	ENSP00000491999.1:n.648G>C
ENST00000640390.1:n.540G>C
ENST00000640560.1:n.386G>C
ENST00000640893.1:c.*8G>C	ENSP00000492677.1:n.*8G>C
ENST00000262493.10:c.610G>C	ENSP00000262493.6:p.Gly204Arg
ENST00000262494.11:c.610G>C	ENSP00000262494.7:p.Gly204Arg
ENST00000568375.1:n.2G>C
NM_020988.2:c.610G>C	NP_066268.1:p.Gly204Arg
NM_138736.2:c.610G>C	NP_620073.2:p.Gly204Arg
XM_011523003.1:c.484G>C	XP_011521305.1:p.Gly162Arg
XM_011523003.3:c.484G>C	XP_011521305.1:p.Gly162Arg
NM_020988.3:c.610G>C MANE Select	NP_066268.1:p.Gly204Arg
NM_138736.3:c.610G>C	NP_620073.2:p.Gly204Arg