Canonical Allele Identifier: CA395949995
Community Standard Title: NM_020988.3(GNAO1):c.358T>G (p.Phe120Val)
Gene: GNAO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56328685T>G , CM000678.2:g.56328685T>G GRCh38
NC_000016.9:g.56362597T>G , CM000678.1:g.56362597T>G GRCh37
NC_000016.8:g.54920098T>G NCBI36
NG_042800.1:g.142347T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020988.3:c.358T>G MANE Select NP_066268.1:p.Phe120Val
ENST00000262493.12:c.358T>G MANE Select ENSP00000262493.6:p.Phe120Val
NM_020988.2:c.358T>G NP_066268.1:p.Phe120Val
NM_138736.2:c.358T>G NP_620073.2:p.Phe120Val
NM_138736.3:c.358T>G NP_620073.2:p.Phe120Val
ENST00000262493.10:c.358T>G ENSP00000262493.6:p.Phe120Val
ENST00000262494.11:c.358T>G ENSP00000262494.7:p.Phe120Val
ENST00000262494.12:c.358T>G ENSP00000262494.7:p.Phe120Val
ENST00000262494.13:c.358T>G ENSP00000262494.7:p.Phe120Val
ENST00000562316.5:c.97T>G ENSP00000457238.1:p.Phe33Val
ENST00000562316.6:c.25T>G ENSP00000457238.2:p.Phe9Val
ENST00000563440.1:c.97T>G ENSP00000455774.1:p.Phe33Val
ENST00000565363.5:c.232T>G ENSP00000454728.1:p.Phe78Val
ENST00000638185.1:n.573T>G
ENST00000638210.1:n.658T>G
ENST00000638705.1:c.358T>G ENSP00000491223.1:p.Phe120Val
ENST00000638836.1:n.268T>G
ENST00000639055.1:n.1079T>G
ENST00000639251.1:n.259T>G
ENST00000639268.1:c.122T>G
ENST00000639770.1:c.396T>G ENSP00000491999.1:n.396T>G
ENST00000639966.1:n.373T>G
ENST00000640390.1:n.288T>G
ENST00000640893.1:c.304-6044T>G ENSP00000492677.1:n.304-6044T>G
XM_011523003.1:c.232T>G XP_011521305.1:p.Phe78Val
XM_011523003.3:c.232T>G XP_011521305.1:p.Phe78Val