Canonical Allele Identifier: CA8063824

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1152491
• ClinVar RCV Id: RCV001493802
• dbSNP Id: rs768258979
• ExAC: 16:56370661 C / G
• gnomAD v2: 16-56370661-C-G
• gnomAD v4: 16-56336749-C-G
• MyVariant Identifiers: chr16:g.56370661C>G (hg19) ; chr16:g.56336749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336749C>G , CM000678.2:g.56336749C>G	GRCh38
NC_000016.9:g.56370661C>G , CM000678.1:g.56370661C>G	GRCh37
NC_000016.8:g.54928162C>G	NCBI36
NG_042800.1:g.150411C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.612C>G	ENSP00000262494.7:p.Gly204=
ENST00000262493.12:c.612C>G MANE Select	ENSP00000262493.6:p.Gly204=
ENST00000262494.12:c.612C>G	ENSP00000262494.7:p.Gly204=
ENST00000562316.6:c.279C>G	ENSP00000457238.2:p.Gly93=
ENST00000568375.2:c.4C>G
ENST00000638185.1:n.827C>G
ENST00000638210.1:n.912C>G
ENST00000638705.1:c.612C>G	ENSP00000491223.1:p.Gly204=
ENST00000638836.1:n.522C>G
ENST00000639055.1:n.1333C>G
ENST00000639251.1:n.513C>G
ENST00000639268.1:c.247C>G
ENST00000639341.1:c.137C>G
ENST00000639770.1:c.650C>G	ENSP00000491999.1:n.650C>G
ENST00000640390.1:n.542C>G
ENST00000640560.1:n.388C>G
ENST00000640893.1:c.*10C>G	ENSP00000492677.1:n.*10C>G
ENST00000262493.10:c.612C>G	ENSP00000262493.6:p.Gly204=
ENST00000262494.11:c.612C>G	ENSP00000262494.7:p.Gly204=
ENST00000568375.1:n.4C>G
NM_020988.2:c.612C>G	NP_066268.1:p.Gly204=
NM_138736.2:c.612C>G	NP_620073.2:p.Gly204=
XM_011523003.1:c.486C>G	XP_011521305.1:p.Gly162=
XM_011523003.3:c.486C>G	XP_011521305.1:p.Gly162=
NM_020988.3:c.612C>G MANE Select	NP_066268.1:p.Gly204=
NM_138736.3:c.612C>G	NP_620073.2:p.Gly204=