Canonical Allele Identifier: CA2633314505

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56334874-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334874C>G , CM000678.2:g.56334874C>G	GRCh38
NC_000016.9:g.56368786C>G , CM000678.1:g.56368786C>G	GRCh37
NC_000016.8:g.54926287C>G	NCBI36
NG_042800.1:g.148536C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.593+17C>G	ENSP00000262494.7:n.593+17C>G
ENST00000262493.12:c.593+17C>G MANE Select	ENSP00000262493.6:n.593+17C>G
ENST00000262494.12:c.593+17C>G	ENSP00000262494.7:n.593+17C>G
ENST00000562316.6:c.260+17C>G	ENSP00000457238.2:n.260+17C>G
ENST00000638185.1:n.808+17C>G
ENST00000638210.1:n.893+17C>G
ENST00000638705.1:c.593+17C>G	ENSP00000491223.1:n.593+17C>G
ENST00000638836.1:n.503+17C>G
ENST00000639055.1:n.1314+17C>G
ENST00000639251.1:n.494+17C>G
ENST00000639268.1:c.229-1857C>G
ENST00000639341.1:c.118+17C>G
ENST00000639770.1:c.631+17C>G	ENSP00000491999.1:n.631+17C>G
ENST00000640390.1:n.523+17C>G
ENST00000640893.1:c.432+17C>G	ENSP00000492677.1:n.432+17C>G
ENST00000262493.10:c.593+17C>G	ENSP00000262493.6:n.593+17C>G
ENST00000262494.11:c.593+17C>G	ENSP00000262494.7:n.593+17C>G
NM_020988.2:c.593+17C>G	NP_066268.1:n.593+17C>G
NM_138736.2:c.593+17C>G	NP_620073.2:n.593+17C>G
XM_011523003.1:c.467+17C>G	XP_011521305.1:n.467+17C>G
XM_011523003.3:c.467+17C>G	XP_011521305.1:n.467+17C>G
NM_020988.3:c.593+17C>G MANE Select	NP_066268.1:n.593+17C>G
NM_138736.3:c.593+17C>G	NP_620073.2:n.593+17C>G