Canonical Allele Identifier: CA396128595
Gene: GNAO1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

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