Canonical Allele Identifier: CA2553923950

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351434G>A , CM000678.2:g.56351434G>A	GRCh38
NC_000016.9:g.56385346G>A , CM000678.1:g.56385346G>A	GRCh37
NC_000016.8:g.54942847G>A	NCBI36
NG_042800.1:g.165096G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.774G>A MANE Select	ENSP00000262493.6:p.Lys258=
ENST00000562316.6:c.441G>A	ENSP00000457238.2:p.Lys147=
ENST00000564727.2:c.78G>A	ENSP00000454971.2:p.Lys26=
ENST00000568375.2:c.116-3432G>A
ENST00000638185.1:n.989G>A
ENST00000638210.1:n.1074G>A
ENST00000638705.1:c.774G>A	ENSP00000491223.1:p.Lys258=
ENST00000638836.1:n.684G>A
ENST00000639055.1:n.1495G>A
ENST00000639251.1:n.675G>A
ENST00000639268.1:c.409G>A
ENST00000639341.1:c.299G>A
ENST00000639770.1:c.812G>A	ENSP00000491999.1:n.812G>A
ENST00000640390.1:n.704G>A
ENST00000640469.1:c.138G>A	ENSP00000491875.1:p.Lys46=
ENST00000640560.1:n.550G>A
ENST00000640893.1:c.*172G>A	ENSP00000492677.1:n.*172G>A
ENST00000262493.10:c.774G>A	ENSP00000262493.6:p.Lys258=
ENST00000568375.1:n.116-3432G>A
NM_020988.2:c.774G>A	NP_066268.1:p.Lys258=
XM_011523003.1:c.648G>A	XP_011521305.1:p.Lys216=
XM_011523003.3:c.648G>A	XP_011521305.1:p.Lys216=
NM_020988.3:c.774G>A MANE Select	NP_066268.1:p.Lys258=