Canonical Allele Identifier: CA281428103

Gene: GNAO1

Linked Data

• dbSNP Id: rs567136805
• gnomAD v3: 16-56336738-G-C
• gnomAD v4: 16-56336738-G-C
• MyVariant Identifiers: chr16:g.56370650G>C (hg19) ; chr16:g.56336738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336738G>C , CM000678.2:g.56336738G>C	GRCh38
NC_000016.9:g.56370650G>C , CM000678.1:g.56370650G>C	GRCh37
NC_000016.8:g.54928151G>C	NCBI36
NG_042800.1:g.150400G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.601G>C	ENSP00000262494.7:p.Asp201His
ENST00000262493.12:c.601G>C MANE Select	ENSP00000262493.6:p.Asp201His
ENST00000262494.12:c.601G>C	ENSP00000262494.7:p.Asp201His
ENST00000562316.6:c.268G>C	ENSP00000457238.2:p.Asp90His
ENST00000638185.1:n.816G>C
ENST00000638210.1:n.901G>C
ENST00000638705.1:c.601G>C	ENSP00000491223.1:p.Asp201His
ENST00000638836.1:n.511G>C
ENST00000639055.1:n.1322G>C
ENST00000639251.1:n.502G>C
ENST00000639268.1:c.236G>C
ENST00000639341.1:c.126G>C
ENST00000639770.1:c.639G>C	ENSP00000491999.1:n.639G>C
ENST00000640390.1:n.531G>C
ENST00000640560.1:n.377G>C
ENST00000640893.1:c.440G>C	ENSP00000492677.1:p.Ter147Ser
ENST00000262493.10:c.601G>C	ENSP00000262493.6:p.Asp201His
ENST00000262494.11:c.601G>C	ENSP00000262494.7:p.Asp201His
NM_020988.2:c.601G>C	NP_066268.1:p.Asp201His
NM_138736.2:c.601G>C	NP_620073.2:p.Asp201His
XM_011523003.1:c.475G>C	XP_011521305.1:p.Asp159His
XM_011523003.3:c.475G>C	XP_011521305.1:p.Asp159His
NM_020988.3:c.601G>C MANE Select	NP_066268.1:p.Asp201His
NM_138736.3:c.601G>C	NP_620073.2:p.Asp201His