Canonical Allele Identifier: CA395954802

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2767766
• ClinVar RCV Id: RCV003590471
• MyVariant Identifiers: chr16:g.56385390A>G (hg19) ; chr16:g.56351478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351478A>G , CM000678.2:g.56351478A>G	GRCh38
NC_000016.9:g.56385390A>G , CM000678.1:g.56385390A>G	GRCh37
NC_000016.8:g.54942891A>G	NCBI36
NG_042800.1:g.165140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.818A>G MANE Select	ENSP00000262493.6:p.Asp273Gly
ENST00000562316.6:c.485A>G	ENSP00000457238.2:p.Asp162Gly
ENST00000564727.2:c.122A>G	ENSP00000454971.2:p.Asp41Gly
ENST00000568375.2:c.116-3388A>G
ENST00000638185.1:n.1033A>G
ENST00000638210.1:n.1118A>G
ENST00000638705.1:c.818A>G	ENSP00000491223.1:p.Asp273Gly
ENST00000638836.1:n.728A>G
ENST00000639055.1:n.1539A>G
ENST00000639251.1:n.719A>G
ENST00000639268.1:c.453A>G
ENST00000639341.1:c.343A>G
ENST00000639770.1:c.856A>G	ENSP00000491999.1:n.856A>G
ENST00000640390.1:n.748A>G
ENST00000640469.1:c.182A>G	ENSP00000491875.1:p.Asp61Gly
ENST00000640560.1:n.594A>G
ENST00000640893.1:c.*216A>G	ENSP00000492677.1:n.*216A>G
ENST00000262493.10:c.818A>G	ENSP00000262493.6:p.Asp273Gly
ENST00000564727.1:c.38A>G	ENSP00000454971.1:p.Asp13Gly
ENST00000568375.1:n.116-3388A>G
NM_020988.2:c.818A>G	NP_066268.1:p.Asp273Gly
XM_011523003.1:c.692A>G	XP_011521305.1:p.Asp231Gly
XM_011523003.3:c.692A>G	XP_011521305.1:p.Asp231Gly
NM_020988.3:c.818A>G MANE Select	NP_066268.1:p.Asp273Gly