Canonical Allele Identifier: CA395952387

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336843-C-G
• MyVariant Identifiers: chr16:g.56370755C>G (hg19) ; chr16:g.56336843C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336843C>G , CM000678.2:g.56336843C>G	GRCh38
NC_000016.9:g.56370755C>G , CM000678.1:g.56370755C>G	GRCh37
NC_000016.8:g.54928256C>G	NCBI36
NG_042800.1:g.150505C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.706C>G	ENSP00000262494.7:p.His236Asp
ENST00000262493.12:c.706C>G MANE Select	ENSP00000262493.6:p.His236Asp
ENST00000262494.12:c.706C>G	ENSP00000262494.7:p.His236Asp
ENST00000562316.6:c.373C>G	ENSP00000457238.2:p.His125Asp
ENST00000564727.2:c.10C>G	ENSP00000454971.2:p.His4Asp
ENST00000568375.2:c.98C>G
ENST00000638185.1:n.921C>G
ENST00000638210.1:n.1006C>G
ENST00000638705.1:c.706C>G	ENSP00000491223.1:p.His236Asp
ENST00000638836.1:n.616C>G
ENST00000639055.1:n.1427C>G
ENST00000639251.1:n.607C>G
ENST00000639268.1:c.341C>G
ENST00000639341.1:c.231C>G
ENST00000639770.1:c.744C>G	ENSP00000491999.1:n.744C>G
ENST00000640390.1:n.636C>G
ENST00000640469.1:c.70C>G	ENSP00000491875.1:p.His24Asp
ENST00000640560.1:n.482C>G
ENST00000640893.1:c.*104C>G	ENSP00000492677.1:n.*104C>G
ENST00000262493.10:c.706C>G	ENSP00000262493.6:p.His236Asp
ENST00000262494.11:c.706C>G	ENSP00000262494.7:p.His236Asp
ENST00000568375.1:n.98C>G
NM_020988.2:c.706C>G	NP_066268.1:p.His236Asp
NM_138736.2:c.706C>G	NP_620073.2:p.His236Asp
XM_011523003.1:c.580C>G	XP_011521305.1:p.His194Asp
XM_011523003.3:c.580C>G	XP_011521305.1:p.His194Asp
NM_020988.3:c.706C>G MANE Select	NP_066268.1:p.His236Asp
NM_138736.3:c.706C>G	NP_620073.2:p.His236Asp