Canonical Allele Identifier: CA358207
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225047
ClinVar RCV Id: RCV000210693 RCV001378535
dbSNP Id: rs869312939
MyVariant Identifiers: chr16:g.56226500G>C (hg19) chr16:g.56192588G>C (hg38)
PubMed: PMID:25356970 PMID:26795593
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56192588G>C , CM000678.2:g.56192588G>C GRCh38
NC_000016.9:g.56226500G>C , CM000678.1:g.56226500G>C GRCh37
NC_000016.8:g.54784001G>C NCBI36
NG_042800.1:g.6250G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262494.13:c.133G>C ENSP00000262494.7:p.Gly45Arg
ENST00000262493.12:c.133G>C MANE Select ENSP00000262493.6:p.Gly45Arg
ENST00000262494.12:c.133G>C ENSP00000262494.7:p.Gly45Arg
ENST00000563661.2:c.133G>C ENSP00000492694.1:p.Gly45Arg
ENST00000569295.6:c.133G>C ENSP00000492271.1:p.Gly45Arg
ENST00000570235.2:c.133G>C ENSP00000477740.2:p.Gly45Arg
ENST00000638705.1:c.133G>C ENSP00000491223.1:p.Gly45Arg
ENST00000638836.1:n.43G>C
ENST00000639251.1:n.34G>C
ENST00000639770.1:c.100G>C ENSP00000491999.1:p.Gly34Arg
ENST00000639966.1:n.148G>C
ENST00000640893.1:c.133G>C ENSP00000492677.1:p.Gly45Arg
ENST00000675160.1:c.133G>C ENSP00000502403.1:p.Gly45Arg
ENST00000262493.10:c.133G>C ENSP00000262493.6:p.Gly45Arg
ENST00000262494.11:c.133G>C ENSP00000262494.7:p.Gly45Arg
ENST00000563661.1:n.130G>C
ENST00000565363.5:c.-366G>C ENSP00000454728.1:n.-366G>C
ENST00000569295.5:n.355G>C
ENST00000570235.1:c.133G>C ENSP00000477740.1:p.Gly45Arg
NM_020988.2:c.133G>C NP_066268.1:p.Gly45Arg
NM_138736.2:c.133G>C NP_620073.2:p.Gly45Arg
XM_011523003.1:c.-366G>C XP_011521305.1:n.-366G>C
XM_011523003.3:c.-366G>C XP_011521305.1:n.-366G>C
NM_020988.3:c.133G>C MANE Select NP_066268.1:p.Gly45Arg
NM_138736.3:c.133G>C NP_620073.2:p.Gly45Arg
Search 100 bp 5'
Search 100 bp 3'