Canonical Allele Identifier: CA395954732

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351448-C-A
• MyVariant Identifiers: chr16:g.56385360C>A (hg19) ; chr16:g.56351448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351448C>A , CM000678.2:g.56351448C>A	GRCh38
NC_000016.9:g.56385360C>A , CM000678.1:g.56385360C>A	GRCh37
NC_000016.8:g.54942861C>A	NCBI36
NG_042800.1:g.165110C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.788C>A MANE Select	ENSP00000262493.6:p.Thr263Asn
ENST00000562316.6:c.455C>A	ENSP00000457238.2:p.Thr152Asn
ENST00000564727.2:c.92C>A	ENSP00000454971.2:p.Thr31Asn
ENST00000568375.2:c.116-3418C>A
ENST00000638185.1:n.1003C>A
ENST00000638210.1:n.1088C>A
ENST00000638705.1:c.788C>A	ENSP00000491223.1:p.Thr263Asn
ENST00000638836.1:n.698C>A
ENST00000639055.1:n.1509C>A
ENST00000639251.1:n.689C>A
ENST00000639268.1:c.423C>A
ENST00000639341.1:c.313C>A
ENST00000639770.1:c.826C>A	ENSP00000491999.1:n.826C>A
ENST00000640390.1:n.718C>A
ENST00000640469.1:c.152C>A	ENSP00000491875.1:p.Thr51Asn
ENST00000640560.1:n.564C>A
ENST00000640893.1:c.*186C>A	ENSP00000492677.1:n.*186C>A
ENST00000262493.10:c.788C>A	ENSP00000262493.6:p.Thr263Asn
ENST00000564727.1:c.8C>A	ENSP00000454971.1:p.Thr3Asn
ENST00000568375.1:n.116-3418C>A
NM_020988.2:c.788C>A	NP_066268.1:p.Thr263Asn
XM_011523003.1:c.662C>A	XP_011521305.1:p.Thr221Asn
XM_011523003.3:c.662C>A	XP_011521305.1:p.Thr221Asn
NM_020988.3:c.788C>A MANE Select	NP_066268.1:p.Thr263Asn