Canonical Allele Identifier: CA2633314504

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56334873-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334873G>T , CM000678.2:g.56334873G>T	GRCh38
NC_000016.9:g.56368785G>T , CM000678.1:g.56368785G>T	GRCh37
NC_000016.8:g.54926286G>T	NCBI36
NG_042800.1:g.148535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.593+16G>T	ENSP00000262494.7:n.593+16G>T
ENST00000262493.12:c.593+16G>T MANE Select	ENSP00000262493.6:n.593+16G>T
ENST00000262494.12:c.593+16G>T	ENSP00000262494.7:n.593+16G>T
ENST00000562316.6:c.260+16G>T	ENSP00000457238.2:n.260+16G>T
ENST00000638185.1:n.808+16G>T
ENST00000638210.1:n.893+16G>T
ENST00000638705.1:c.593+16G>T	ENSP00000491223.1:n.593+16G>T
ENST00000638836.1:n.503+16G>T
ENST00000639055.1:n.1314+16G>T
ENST00000639251.1:n.494+16G>T
ENST00000639268.1:c.229-1858G>T
ENST00000639341.1:c.118+16G>T
ENST00000639770.1:c.631+16G>T	ENSP00000491999.1:n.631+16G>T
ENST00000640390.1:n.523+16G>T
ENST00000640893.1:c.432+16G>T	ENSP00000492677.1:n.432+16G>T
ENST00000262493.10:c.593+16G>T	ENSP00000262493.6:n.593+16G>T
ENST00000262494.11:c.593+16G>T	ENSP00000262494.7:n.593+16G>T
NM_020988.2:c.593+16G>T	NP_066268.1:n.593+16G>T
NM_138736.2:c.593+16G>T	NP_620073.2:n.593+16G>T
XM_011523003.1:c.467+16G>T	XP_011521305.1:n.467+16G>T
XM_011523003.3:c.467+16G>T	XP_011521305.1:n.467+16G>T
NM_020988.3:c.593+16G>T MANE Select	NP_066268.1:n.593+16G>T
NM_138736.3:c.593+16G>T	NP_620073.2:n.593+16G>T