Canonical Allele Identifier: CA395954872

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385420C>A (hg19) ; chr16:g.56351508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351508C>A , CM000678.2:g.56351508C>A	GRCh38
NC_000016.9:g.56385420C>A , CM000678.1:g.56385420C>A	GRCh37
NC_000016.8:g.54942921C>A	NCBI36
NG_042800.1:g.165170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.848C>A MANE Select	ENSP00000262493.6:p.Pro283His
ENST00000562316.6:c.515C>A	ENSP00000457238.2:p.Pro172His
ENST00000564727.2:c.152C>A	ENSP00000454971.2:p.Pro51His
ENST00000568375.2:c.116-3358C>A
ENST00000638185.1:n.1063C>A
ENST00000638210.1:n.1148C>A
ENST00000638705.1:c.848C>A	ENSP00000491223.1:p.Pro283His
ENST00000638836.1:n.758C>A
ENST00000639055.1:n.1569C>A
ENST00000639251.1:n.749C>A
ENST00000639268.1:c.483C>A
ENST00000639341.1:c.373C>A
ENST00000639770.1:c.886C>A	ENSP00000491999.1:n.886C>A
ENST00000640390.1:n.778C>A
ENST00000640469.1:c.212C>A	ENSP00000491875.1:p.Pro71His
ENST00000640560.1:n.624C>A
ENST00000640893.1:c.*246C>A	ENSP00000492677.1:n.*246C>A
ENST00000262493.10:c.848C>A	ENSP00000262493.6:p.Pro283His
ENST00000564727.1:c.68C>A	ENSP00000454971.1:p.Pro23His
ENST00000568375.1:n.116-3358C>A
NM_020988.2:c.848C>A	NP_066268.1:p.Pro283His
XM_011523003.1:c.722C>A	XP_011521305.1:p.Pro241His
XM_011523003.3:c.722C>A	XP_011521305.1:p.Pro241His
NM_020988.3:c.848C>A MANE Select	NP_066268.1:p.Pro283His