Canonical Allele Identifier: CA395954619

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385315T>A (hg19) ; chr16:g.56351403T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351403T>A , CM000678.2:g.56351403T>A	GRCh38
NC_000016.9:g.56385315T>A , CM000678.1:g.56385315T>A	GRCh37
NC_000016.8:g.54942816T>A	NCBI36
NG_042800.1:g.165065T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.743T>A MANE Select	ENSP00000262493.6:p.Leu248His
ENST00000562316.6:c.410T>A	ENSP00000457238.2:p.Leu137His
ENST00000564727.2:c.47T>A	ENSP00000454971.2:p.Leu16His
ENST00000568375.2:c.116-3463T>A
ENST00000638185.1:n.958T>A
ENST00000638210.1:n.1043T>A
ENST00000638705.1:c.743T>A	ENSP00000491223.1:p.Leu248His
ENST00000638836.1:n.653T>A
ENST00000639055.1:n.1464T>A
ENST00000639251.1:n.644T>A
ENST00000639268.1:c.378T>A
ENST00000639341.1:c.268T>A
ENST00000639770.1:c.781T>A	ENSP00000491999.1:n.781T>A
ENST00000640390.1:n.673T>A
ENST00000640469.1:c.107T>A	ENSP00000491875.1:p.Leu36His
ENST00000640560.1:n.519T>A
ENST00000640893.1:c.*141T>A	ENSP00000492677.1:n.*141T>A
ENST00000262493.10:c.743T>A	ENSP00000262493.6:p.Leu248His
ENST00000568375.1:n.116-3463T>A
NM_020988.2:c.743T>A	NP_066268.1:p.Leu248His
XM_011523003.1:c.617T>A	XP_011521305.1:p.Leu206His
XM_011523003.3:c.617T>A	XP_011521305.1:p.Leu206His
NM_020988.3:c.743T>A MANE Select	NP_066268.1:p.Leu248His