Canonical Allele Identifier: CA395952165

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336745-G-T
• MyVariant Identifiers: chr16:g.56370657G>T (hg19) ; chr16:g.56336745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336745G>T , CM000678.2:g.56336745G>T	GRCh38
NC_000016.9:g.56370657G>T , CM000678.1:g.56370657G>T	GRCh37
NC_000016.8:g.54928158G>T	NCBI36
NG_042800.1:g.150407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.608G>T	ENSP00000262494.7:p.Gly203Val
ENST00000262493.12:c.608G>T MANE Select	ENSP00000262493.6:p.Gly203Val
ENST00000262494.12:c.608G>T	ENSP00000262494.7:p.Gly203Val
ENST00000562316.6:c.275G>T	ENSP00000457238.2:p.Gly92Val
ENST00000638185.1:n.823G>T
ENST00000638210.1:n.908G>T
ENST00000638705.1:c.608G>T	ENSP00000491223.1:p.Gly203Val
ENST00000638836.1:n.518G>T
ENST00000639055.1:n.1329G>T
ENST00000639251.1:n.509G>T
ENST00000639268.1:c.243G>T
ENST00000639341.1:c.133G>T
ENST00000639770.1:c.646G>T	ENSP00000491999.1:n.646G>T
ENST00000640390.1:n.538G>T
ENST00000640560.1:n.384G>T
ENST00000640893.1:c.*6G>T	ENSP00000492677.1:n.*6G>T
ENST00000262493.10:c.608G>T	ENSP00000262493.6:p.Gly203Val
ENST00000262494.11:c.608G>T	ENSP00000262494.7:p.Gly203Val
NM_020988.2:c.608G>T	NP_066268.1:p.Gly203Val
NM_138736.2:c.608G>T	NP_620073.2:p.Gly203Val
XM_011523003.1:c.482G>T	XP_011521305.1:p.Gly161Val
XM_011523003.3:c.482G>T	XP_011521305.1:p.Gly161Val
NM_020988.3:c.608G>T MANE Select	NP_066268.1:p.Gly203Val
NM_138736.3:c.608G>T	NP_620073.2:p.Gly203Val