Canonical Allele Identifier: CA2575998633

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56355055-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355055C>T , CM000678.2:g.56355055C>T	GRCh38
NC_000016.9:g.56388967C>T , CM000678.1:g.56388967C>T	GRCh37
NC_000016.8:g.54946468C>T	NCBI36
NG_042800.1:g.168717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.*2C>T MANE Select	ENSP00000262493.6:n.*2C>T
ENST00000562316.6:c.545-1048C>T	ENSP00000457238.2:n.545-1048C>T
ENST00000564727.2:c.303+68C>T	ENSP00000454971.2:n.303+68C>T
ENST00000568375.2:c.305C>T
ENST00000638210.1:n.1367C>T
ENST00000638705.1:c.*2C>T	ENSP00000491223.1:n.*2C>T
ENST00000638836.1:n.977C>T
ENST00000639251.1:n.968C>T
ENST00000639268.1:c.702C>T
ENST00000639341.1:c.592C>T
ENST00000639770.1:c.1105C>T	ENSP00000491999.1:n.1105C>T
ENST00000640390.1:n.997C>T
ENST00000640469.1:c.431C>T	ENSP00000491875.1:n.431C>T
ENST00000640560.1:n.843C>T
ENST00000640893.1:c.*465C>T	ENSP00000492677.1:n.*465C>T
ENST00000262493.10:c.*2C>T	ENSP00000262493.6:n.*2C>T
ENST00000564727.1:c.287C>T	ENSP00000454971.1:n.287C>T
ENST00000568375.1:n.305C>T
NM_020988.2:c.*2C>T	NP_066268.1:n.*2C>T
XM_011523003.1:c.*2C>T	XP_011521305.1:n.*2C>T
XM_011523003.3:c.*2C>T	XP_011521305.1:n.*2C>T
NM_020988.3:c.*2C>T MANE Select	NP_066268.1:n.*2C>T