Canonical Allele Identifier: CA395952144

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370648T>C (hg19) ; chr16:g.56336736T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336736T>C , CM000678.2:g.56336736T>C	GRCh38
NC_000016.9:g.56370648T>C , CM000678.1:g.56370648T>C	GRCh37
NC_000016.8:g.54928149T>C	NCBI36
NG_042800.1:g.150398T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.599T>C	ENSP00000262494.7:p.Phe200Ser
ENST00000262493.12:c.599T>C MANE Select	ENSP00000262493.6:p.Phe200Ser
ENST00000262494.12:c.599T>C	ENSP00000262494.7:p.Phe200Ser
ENST00000562316.6:c.266T>C	ENSP00000457238.2:p.Phe89Ser
ENST00000638185.1:n.814T>C
ENST00000638210.1:n.899T>C
ENST00000638705.1:c.599T>C	ENSP00000491223.1:p.Phe200Ser
ENST00000638836.1:n.509T>C
ENST00000639055.1:n.1320T>C
ENST00000639251.1:n.500T>C
ENST00000639268.1:c.234T>C
ENST00000639341.1:c.124T>C
ENST00000639770.1:c.637T>C	ENSP00000491999.1:n.637T>C
ENST00000640390.1:n.529T>C
ENST00000640560.1:n.375T>C
ENST00000640893.1:c.438T>C	ENSP00000492677.1:p.Val146=
ENST00000262493.10:c.599T>C	ENSP00000262493.6:p.Phe200Ser
ENST00000262494.11:c.599T>C	ENSP00000262494.7:p.Phe200Ser
NM_020988.2:c.599T>C	NP_066268.1:p.Phe200Ser
NM_138736.2:c.599T>C	NP_620073.2:p.Phe200Ser
XM_011523003.1:c.473T>C	XP_011521305.1:p.Phe158Ser
XM_011523003.3:c.473T>C	XP_011521305.1:p.Phe158Ser
NM_020988.3:c.599T>C MANE Select	NP_066268.1:p.Phe200Ser
NM_138736.3:c.599T>C	NP_620073.2:p.Phe200Ser