Canonical Allele Identifier: CA395954809

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385393T>A (hg19) ; chr16:g.56351481T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351481T>A , CM000678.2:g.56351481T>A	GRCh38
NC_000016.9:g.56385393T>A , CM000678.1:g.56385393T>A	GRCh37
NC_000016.8:g.54942894T>A	NCBI36
NG_042800.1:g.165143T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.821T>A MANE Select	ENSP00000262493.6:p.Leu274His
ENST00000562316.6:c.488T>A	ENSP00000457238.2:p.Leu163His
ENST00000564727.2:c.125T>A	ENSP00000454971.2:p.Leu42His
ENST00000568375.2:c.116-3385T>A
ENST00000638185.1:n.1036T>A
ENST00000638210.1:n.1121T>A
ENST00000638705.1:c.821T>A	ENSP00000491223.1:p.Leu274His
ENST00000638836.1:n.731T>A
ENST00000639055.1:n.1542T>A
ENST00000639251.1:n.722T>A
ENST00000639268.1:c.456T>A
ENST00000639341.1:c.346T>A
ENST00000639770.1:c.859T>A	ENSP00000491999.1:n.859T>A
ENST00000640390.1:n.751T>A
ENST00000640469.1:c.185T>A	ENSP00000491875.1:p.Leu62His
ENST00000640560.1:n.597T>A
ENST00000640893.1:c.*219T>A	ENSP00000492677.1:n.*219T>A
ENST00000262493.10:c.821T>A	ENSP00000262493.6:p.Leu274His
ENST00000564727.1:c.41T>A	ENSP00000454971.1:p.Leu14His
ENST00000568375.1:n.116-3385T>A
NM_020988.2:c.821T>A	NP_066268.1:p.Leu274His
XM_011523003.1:c.695T>A	XP_011521305.1:p.Leu232His
XM_011523003.3:c.695T>A	XP_011521305.1:p.Leu232His
NM_020988.3:c.821T>A MANE Select	NP_066268.1:p.Leu274His