Canonical Allele Identifier: CA214447
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 66113
ClinVar RCV Id: RCV000056406 RCV002281559
dbSNP Id: rs587777055
MyVariant Identifiers: chr16:g.56368697A>G (hg19) chr16:g.56334785A>G (hg38)
PubMed: PMID:23993195
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56334785A>G , CM000678.2:g.56334785A>G GRCh38
NC_000016.9:g.56368697A>G , CM000678.1:g.56368697A>G GRCh37
NC_000016.8:g.54926198A>G NCBI36
NG_042800.1:g.148447A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262494.13:c.521A>G ENSP00000262494.7:p.Asp174Gly
ENST00000262493.12:c.521A>G MANE Select ENSP00000262493.6:p.Asp174Gly
ENST00000262494.12:c.521A>G ENSP00000262494.7:p.Asp174Gly
ENST00000562316.6:c.188A>G ENSP00000457238.2:p.Asp63Gly
ENST00000638185.1:n.736A>G
ENST00000638210.1:n.821A>G
ENST00000638705.1:c.521A>G ENSP00000491223.1:p.Asp174Gly
ENST00000638836.1:n.431A>G
ENST00000639055.1:n.1242A>G
ENST00000639251.1:n.422A>G
ENST00000639268.1:c.229-1946A>G
ENST00000639341.1:c.46A>G
ENST00000639770.1:c.559A>G ENSP00000491999.1:n.559A>G
ENST00000640390.1:n.451A>G
ENST00000640893.1:c.360A>G ENSP00000492677.1:p.Gly120=
ENST00000262493.10:c.521A>G ENSP00000262493.6:p.Asp174Gly
ENST00000262494.11:c.521A>G ENSP00000262494.7:p.Asp174Gly
ENST00000562316.5:c.260A>G ENSP00000457238.1:p.Asp87Gly
NM_020988.2:c.521A>G NP_066268.1:p.Asp174Gly
NM_138736.2:c.521A>G NP_620073.2:p.Asp174Gly
XM_011523003.1:c.395A>G XP_011521305.1:p.Asp132Gly
XM_011523003.3:c.395A>G XP_011521305.1:p.Asp132Gly
NM_020988.3:c.521A>G MANE Select NP_066268.1:p.Asp174Gly
NM_138736.3:c.521A>G NP_620073.2:p.Asp174Gly
Search 100 bp 5'
Search 100 bp 3'