Canonical Allele Identifier: CA395952161

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 803257
• ClinVar RCV Id: RCV000989604
• dbSNP Id: rs587777057
• MyVariant Identifiers: chr16:g.56370656G>C (hg19) ; chr16:g.56336744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336744G>C , CM000678.2:g.56336744G>C	GRCh38
NC_000016.9:g.56370656G>C , CM000678.1:g.56370656G>C	GRCh37
NC_000016.8:g.54928157G>C	NCBI36
NG_042800.1:g.150406G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.607G>C	ENSP00000262494.7:p.Gly203Arg
ENST00000262493.12:c.607G>C MANE Select	ENSP00000262493.6:p.Gly203Arg
ENST00000262494.12:c.607G>C	ENSP00000262494.7:p.Gly203Arg
ENST00000562316.6:c.274G>C	ENSP00000457238.2:p.Gly92Arg
ENST00000638185.1:n.822G>C
ENST00000638210.1:n.907G>C
ENST00000638705.1:c.607G>C	ENSP00000491223.1:p.Gly203Arg
ENST00000638836.1:n.517G>C
ENST00000639055.1:n.1328G>C
ENST00000639251.1:n.508G>C
ENST00000639268.1:c.242G>C
ENST00000639341.1:c.132G>C
ENST00000639770.1:c.645G>C	ENSP00000491999.1:n.645G>C
ENST00000640390.1:n.537G>C
ENST00000640560.1:n.383G>C
ENST00000640893.1:c.*5G>C	ENSP00000492677.1:n.*5G>C
ENST00000262493.10:c.607G>C	ENSP00000262493.6:p.Gly203Arg
ENST00000262494.11:c.607G>C	ENSP00000262494.7:p.Gly203Arg
NM_020988.2:c.607G>C	NP_066268.1:p.Gly203Arg
NM_138736.2:c.607G>C	NP_620073.2:p.Gly203Arg
XM_011523003.1:c.481G>C	XP_011521305.1:p.Gly161Arg
XM_011523003.3:c.481G>C	XP_011521305.1:p.Gly161Arg
NM_020988.3:c.607G>C MANE Select	NP_066268.1:p.Gly203Arg
NM_138736.3:c.607G>C	NP_620073.2:p.Gly203Arg