Canonical Allele Identifier: CA395954598

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385305C>T (hg19) ; chr16:g.56351393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351393C>T , CM000678.2:g.56351393C>T	GRCh38
NC_000016.9:g.56385305C>T , CM000678.1:g.56385305C>T	GRCh37
NC_000016.8:g.54942806C>T	NCBI36
NG_042800.1:g.165055C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.733C>T MANE Select	ENSP00000262493.6:p.His245Tyr
ENST00000562316.6:c.400C>T	ENSP00000457238.2:p.His134Tyr
ENST00000564727.2:c.37C>T	ENSP00000454971.2:p.His13Tyr
ENST00000568375.2:c.116-3473C>T
ENST00000638185.1:n.948C>T
ENST00000638210.1:n.1033C>T
ENST00000638705.1:c.733C>T	ENSP00000491223.1:p.His245Tyr
ENST00000638836.1:n.643C>T
ENST00000639055.1:n.1454C>T
ENST00000639251.1:n.634C>T
ENST00000639268.1:c.368C>T
ENST00000639341.1:c.258C>T
ENST00000639770.1:c.771C>T	ENSP00000491999.1:n.771C>T
ENST00000640390.1:n.663C>T
ENST00000640469.1:c.97C>T	ENSP00000491875.1:p.His33Tyr
ENST00000640560.1:n.509C>T
ENST00000640893.1:c.*131C>T	ENSP00000492677.1:n.*131C>T
ENST00000262493.10:c.733C>T	ENSP00000262493.6:p.His245Tyr
ENST00000568375.1:n.116-3473C>T
NM_020988.2:c.733C>T	NP_066268.1:p.His245Tyr
XM_011523003.1:c.607C>T	XP_011521305.1:p.His203Tyr
XM_011523003.3:c.607C>T	XP_011521305.1:p.His203Tyr
NM_020988.3:c.733C>T MANE Select	NP_066268.1:p.His245Tyr