Canonical Allele Identifier: CA495573512
Gene: GNAO1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.56368722C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56334810C>T , CM000678.2:g.56334810C>T GRCh38
NC_000016.9:g.56368722C>T , CM000678.1:g.56368722C>T GRCh37
NC_000016.8:g.54926223C>T NCBI36
NG_042800.1:g.148472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262494.13:c.546C>T ENSP00000262494.7:p.Thr182=
ENST00000262493.12:c.546C>T MANE Select ENSP00000262493.6:p.Thr182=
ENST00000262494.12:c.546C>T ENSP00000262494.7:p.Thr182=
ENST00000562316.6:c.213C>T ENSP00000457238.2:p.Thr71=
ENST00000638185.1:n.761C>T
ENST00000638210.1:n.846C>T
ENST00000638705.1:c.546C>T ENSP00000491223.1:p.Thr182=
ENST00000638836.1:n.456C>T
ENST00000639055.1:n.1267C>T
ENST00000639251.1:n.447C>T
ENST00000639268.1:c.229-1921C>T
ENST00000639341.1:c.71C>T
ENST00000639770.1:c.584C>T ENSP00000491999.1:n.584C>T
ENST00000640390.1:n.476C>T
ENST00000640893.1:c.385C>T ENSP00000492677.1:p.His129Tyr
ENST00000262493.10:c.546C>T ENSP00000262493.6:p.Thr182=
ENST00000262494.11:c.546C>T ENSP00000262494.7:p.Thr182=
ENST00000562316.5:c.285C>T ENSP00000457238.1:p.Thr95=
NM_020988.2:c.546C>T NP_066268.1:p.Thr182=
NM_138736.2:c.546C>T NP_620073.2:p.Thr182=
XM_011523003.1:c.420C>T XP_011521305.1:p.Thr140=
XM_011523003.3:c.420C>T XP_011521305.1:p.Thr140=
NM_020988.3:c.546C>T MANE Select NP_066268.1:p.Thr182=
NM_138736.3:c.546C>T NP_620073.2:p.Thr182=