Canonical Allele Identifier: CA2224101385
Gene: GNAO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2828814
ClinVar RCV Id: RCV003754403
dbSNP Id: rs2037723644

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56334718G>T , CM000678.2:g.56334718G>T GRCh38
NC_000016.9:g.56368630G>T , CM000678.1:g.56368630G>T GRCh37
NC_000016.8:g.54926131G>T NCBI36
NG_042800.1:g.148380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262494.13:c.465-11G>T ENSP00000262494.7:n.465-11G>T
ENST00000262493.12:c.465-11G>T MANE Select ENSP00000262493.6:n.465-11G>T
ENST00000262494.12:c.465-11G>T ENSP00000262494.7:n.465-11G>T
ENST00000562316.6:c.132-11G>T ENSP00000457238.2:n.132-11G>T
ENST00000638185.1:n.680-11G>T
ENST00000638210.1:n.765-11G>T
ENST00000638705.1:c.465-11G>T ENSP00000491223.1:n.465-11G>T
ENST00000638836.1:n.375-11G>T
ENST00000639055.1:n.1186-11G>T
ENST00000639251.1:n.366-11G>T
ENST00000639268.1:c.229-2013G>T
ENST00000639770.1:c.503-11G>T ENSP00000491999.1:n.503-11G>T
ENST00000640390.1:n.395-11G>T
ENST00000640893.1:c.304-11G>T ENSP00000492677.1:n.304-11G>T
ENST00000262493.10:c.465-11G>T ENSP00000262493.6:n.465-11G>T
ENST00000262494.11:c.465-11G>T ENSP00000262494.7:n.465-11G>T
ENST00000562316.5:c.204-11G>T ENSP00000457238.1:n.204-11G>T
ENST00000563440.1:c.204-11G>T ENSP00000455774.1:n.204-11G>T
ENST00000565363.5:c.339-11G>T ENSP00000454728.1:n.339-11G>T
NM_020988.2:c.465-11G>T NP_066268.1:n.465-11G>T
NM_138736.2:c.465-11G>T NP_620073.2:n.465-11G>T
XM_011523003.1:c.339-11G>T XP_011521305.1:n.339-11G>T
XM_011523003.3:c.339-11G>T XP_011521305.1:n.339-11G>T
NM_020988.3:c.465-11G>T MANE Select NP_066268.1:n.465-11G>T
NM_138736.3:c.465-11G>T NP_620073.2:n.465-11G>T