Canonical Allele Identifier: CA8063806

Gene: GNAO1

Linked Data

• dbSNP Id: rs372324760
• ExAC: 16:56368792 G / A
• gnomAD v2: 16-56368792-G-A
• gnomAD v3: 16-56334880-G-A
• gnomAD v4: 16-56334880-G-A
• MyVariant Identifiers: chr16:g.56368792G>A (hg19) ; chr16:g.56334880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334880G>A , CM000678.2:g.56334880G>A	GRCh38
NC_000016.9:g.56368792G>A , CM000678.1:g.56368792G>A	GRCh37
NC_000016.8:g.54926293G>A	NCBI36
NG_042800.1:g.148542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.593+23G>A	ENSP00000262494.7:n.593+23G>A
ENST00000262493.12:c.593+23G>A MANE Select	ENSP00000262493.6:n.593+23G>A
ENST00000262494.12:c.593+23G>A	ENSP00000262494.7:n.593+23G>A
ENST00000562316.6:c.260+23G>A	ENSP00000457238.2:n.260+23G>A
ENST00000638185.1:n.808+23G>A
ENST00000638210.1:n.893+23G>A
ENST00000638705.1:c.593+23G>A	ENSP00000491223.1:n.593+23G>A
ENST00000638836.1:n.503+23G>A
ENST00000639055.1:n.1314+23G>A
ENST00000639251.1:n.494+23G>A
ENST00000639268.1:c.229-1851G>A
ENST00000639341.1:c.118+23G>A
ENST00000639770.1:c.631+23G>A	ENSP00000491999.1:n.631+23G>A
ENST00000640390.1:n.523+23G>A
ENST00000640893.1:c.432+23G>A	ENSP00000492677.1:n.432+23G>A
ENST00000262493.10:c.593+23G>A	ENSP00000262493.6:n.593+23G>A
ENST00000262494.11:c.593+23G>A	ENSP00000262494.7:n.593+23G>A
NM_020988.2:c.593+23G>A	NP_066268.1:n.593+23G>A
NM_138736.2:c.593+23G>A	NP_620073.2:n.593+23G>A
XM_011523003.1:c.467+23G>A	XP_011521305.1:n.467+23G>A
XM_011523003.3:c.467+23G>A	XP_011521305.1:n.467+23G>A
NM_020988.3:c.593+23G>A MANE Select	NP_066268.1:n.593+23G>A
NM_138736.3:c.593+23G>A	NP_620073.2:n.593+23G>A