Canonical Allele Identifier: CA395952171

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336748-G-T
• MyVariant Identifiers: chr16:g.56370660G>T (hg19) ; chr16:g.56336748G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336748G>T , CM000678.2:g.56336748G>T	GRCh38
NC_000016.9:g.56370660G>T , CM000678.1:g.56370660G>T	GRCh37
NC_000016.8:g.54928161G>T	NCBI36
NG_042800.1:g.150410G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.611G>T	ENSP00000262494.7:p.Gly204Val
ENST00000262493.12:c.611G>T MANE Select	ENSP00000262493.6:p.Gly204Val
ENST00000262494.12:c.611G>T	ENSP00000262494.7:p.Gly204Val
ENST00000562316.6:c.278G>T	ENSP00000457238.2:p.Gly93Val
ENST00000568375.2:c.3G>T
ENST00000638185.1:n.826G>T
ENST00000638210.1:n.911G>T
ENST00000638705.1:c.611G>T	ENSP00000491223.1:p.Gly204Val
ENST00000638836.1:n.521G>T
ENST00000639055.1:n.1332G>T
ENST00000639251.1:n.512G>T
ENST00000639268.1:c.246G>T
ENST00000639341.1:c.136G>T
ENST00000639770.1:c.649G>T	ENSP00000491999.1:n.649G>T
ENST00000640390.1:n.541G>T
ENST00000640560.1:n.387G>T
ENST00000640893.1:c.*9G>T	ENSP00000492677.1:n.*9G>T
ENST00000262493.10:c.611G>T	ENSP00000262493.6:p.Gly204Val
ENST00000262494.11:c.611G>T	ENSP00000262494.7:p.Gly204Val
ENST00000568375.1:n.3G>T
NM_020988.2:c.611G>T	NP_066268.1:p.Gly204Val
NM_138736.2:c.611G>T	NP_620073.2:p.Gly204Val
XM_011523003.1:c.485G>T	XP_011521305.1:p.Gly162Val
XM_011523003.3:c.485G>T	XP_011521305.1:p.Gly162Val
NM_020988.3:c.611G>T MANE Select	NP_066268.1:p.Gly204Val
NM_138736.3:c.611G>T	NP_620073.2:p.Gly204Val