Canonical Allele Identifier: CA8063757
Community Standard Title: NM_020988.3(GNAO1):c.450C>T (p.Asn150=)
Gene: GNAO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56328777C>T , CM000678.2:g.56328777C>T GRCh38
NC_000016.9:g.56362689C>T , CM000678.1:g.56362689C>T GRCh37
NC_000016.8:g.54920190C>T NCBI36
NG_042800.1:g.142439C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020988.3:c.450C>T MANE Select NP_066268.1:p.Asn150=
ENST00000262493.12:c.450C>T MANE Select ENSP00000262493.6:p.Asn150=
NM_020988.2:c.450C>T NP_066268.1:p.Asn150=
NM_138736.2:c.450C>T NP_620073.2:p.Asn150=
NM_138736.3:c.450C>T NP_620073.2:p.Asn150=
ENST00000262493.10:c.450C>T ENSP00000262493.6:p.Asn150=
ENST00000262494.11:c.450C>T ENSP00000262494.7:p.Asn150=
ENST00000262494.12:c.450C>T ENSP00000262494.7:p.Asn150=
ENST00000262494.13:c.450C>T ENSP00000262494.7:p.Asn150=
ENST00000562316.5:c.189C>T ENSP00000457238.1:p.Asn63=
ENST00000562316.6:c.117C>T ENSP00000457238.2:p.Asn39=
ENST00000563440.1:c.189C>T ENSP00000455774.1:p.Asn63=
ENST00000565363.5:c.324C>T ENSP00000454728.1:p.Asn108=
ENST00000638185.1:n.665C>T
ENST00000638210.1:n.750C>T
ENST00000638705.1:c.450C>T ENSP00000491223.1:p.Asn150=
ENST00000638836.1:n.360C>T
ENST00000639055.1:n.1171C>T
ENST00000639251.1:n.351C>T
ENST00000639268.1:c.214C>T
ENST00000639770.1:c.488C>T ENSP00000491999.1:n.488C>T
ENST00000639966.1:n.465C>T
ENST00000640390.1:n.380C>T
ENST00000640893.1:c.304-5952C>T ENSP00000492677.1:n.304-5952C>T
XM_011523003.1:c.324C>T XP_011521305.1:p.Asn108=
XM_011523003.3:c.324C>T XP_011521305.1:p.Asn108=