Canonical Allele Identifier: CA395951396

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56334740-G-C
• MyVariant Identifiers: chr16:g.56368652G>C (hg19) ; chr16:g.56334740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334740G>C , CM000678.2:g.56334740G>C	GRCh38
NC_000016.9:g.56368652G>C , CM000678.1:g.56368652G>C	GRCh37
NC_000016.8:g.54926153G>C	NCBI36
NG_042800.1:g.148402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.476G>C	ENSP00000262494.7:p.Ser159Thr
ENST00000262493.12:c.476G>C MANE Select	ENSP00000262493.6:p.Ser159Thr
ENST00000262494.12:c.476G>C	ENSP00000262494.7:p.Ser159Thr
ENST00000562316.6:c.143G>C	ENSP00000457238.2:p.Ser48Thr
ENST00000638185.1:n.691G>C
ENST00000638210.1:n.776G>C
ENST00000638705.1:c.476G>C	ENSP00000491223.1:p.Ser159Thr
ENST00000638836.1:n.386G>C
ENST00000639055.1:n.1197G>C
ENST00000639251.1:n.377G>C
ENST00000639268.1:c.229-1991G>C
ENST00000639341.1:c.1G>C
ENST00000639770.1:c.514G>C	ENSP00000491999.1:n.514G>C
ENST00000640390.1:n.406G>C
ENST00000640893.1:c.315G>C	ENSP00000492677.1:p.Gln105His
ENST00000262493.10:c.476G>C	ENSP00000262493.6:p.Ser159Thr
ENST00000262494.11:c.476G>C	ENSP00000262494.7:p.Ser159Thr
ENST00000562316.5:c.215G>C	ENSP00000457238.1:p.Ser72Thr
ENST00000563440.1:c.215G>C	ENSP00000455774.1:p.Ser72Thr
ENST00000565363.5:c.350G>C	ENSP00000454728.1:p.Ser117Thr
NM_020988.2:c.476G>C	NP_066268.1:p.Ser159Thr
NM_138736.2:c.476G>C	NP_620073.2:p.Ser159Thr
XM_011523003.1:c.350G>C	XP_011521305.1:p.Ser117Thr
XM_011523003.3:c.350G>C	XP_011521305.1:p.Ser117Thr
NM_020988.3:c.476G>C MANE Select	NP_066268.1:p.Ser159Thr
NM_138736.3:c.476G>C	NP_620073.2:p.Ser159Thr