Canonical Allele Identifier: CA395954939

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385449G>A (hg19) ; chr16:g.56351537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351537G>A , CM000678.2:g.56351537G>A	GRCh38
NC_000016.9:g.56385449G>A , CM000678.1:g.56385449G>A	GRCh37
NC_000016.8:g.54942950G>A	NCBI36
NG_042800.1:g.165199G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.877G>A MANE Select	ENSP00000262493.6:p.Gly293Ser
ENST00000562316.6:c.544G>A	ENSP00000457238.2:p.Asp182Asn
ENST00000564727.2:c.181G>A	ENSP00000454971.2:p.Gly61Ser
ENST00000568375.2:c.116-3329G>A
ENST00000638185.1:n.1092G>A
ENST00000638210.1:n.1177G>A
ENST00000638705.1:c.877G>A	ENSP00000491223.1:p.Gly293Ser
ENST00000638836.1:n.787G>A
ENST00000639055.1:n.1598G>A
ENST00000639251.1:n.778G>A
ENST00000639268.1:c.512G>A
ENST00000639341.1:c.402G>A
ENST00000639770.1:c.915G>A	ENSP00000491999.1:n.915G>A
ENST00000640390.1:n.807G>A
ENST00000640469.1:c.241G>A	ENSP00000491875.1:p.Gly81Ser
ENST00000640560.1:n.653G>A
ENST00000640893.1:c.*275G>A	ENSP00000492677.1:n.*275G>A
ENST00000262493.10:c.877G>A	ENSP00000262493.6:p.Gly293Ser
ENST00000564727.1:c.97G>A	ENSP00000454971.1:p.Gly33Ser
ENST00000568375.1:n.116-3329G>A
NM_020988.2:c.877G>A	NP_066268.1:p.Gly293Ser
XM_011523003.1:c.751G>A	XP_011521305.1:p.Gly251Ser
XM_011523003.3:c.751G>A	XP_011521305.1:p.Gly251Ser
NM_020988.3:c.877G>A MANE Select	NP_066268.1:p.Gly293Ser