Canonical Allele Identifier: CA8063991

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 697205
• ClinVar RCV Id: RCV000863945
• dbSNP Id: rs201930720
• ExAC: 16:56385307 C / T
• gnomAD v2: 16-56385307-C-T
• gnomAD v3: 16-56351395-C-T
• gnomAD v4: 16-56351395-C-T
• MyVariant Identifiers: chr16:g.56385307C>T (hg19) ; chr16:g.56351395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351395C>T , CM000678.2:g.56351395C>T	GRCh38
NC_000016.9:g.56385307C>T , CM000678.1:g.56385307C>T	GRCh37
NC_000016.8:g.54942808C>T	NCBI36
NG_042800.1:g.165057C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.735C>T MANE Select	ENSP00000262493.6:p.His245=
ENST00000562316.6:c.402C>T	ENSP00000457238.2:p.His134=
ENST00000564727.2:c.39C>T	ENSP00000454971.2:p.His13=
ENST00000568375.2:c.116-3471C>T
ENST00000638185.1:n.950C>T
ENST00000638210.1:n.1035C>T
ENST00000638705.1:c.735C>T	ENSP00000491223.1:p.His245=
ENST00000638836.1:n.645C>T
ENST00000639055.1:n.1456C>T
ENST00000639251.1:n.636C>T
ENST00000639268.1:c.370C>T
ENST00000639341.1:c.260C>T
ENST00000639770.1:c.773C>T	ENSP00000491999.1:n.773C>T
ENST00000640390.1:n.665C>T
ENST00000640469.1:c.99C>T	ENSP00000491875.1:p.His33=
ENST00000640560.1:n.511C>T
ENST00000640893.1:c.*133C>T	ENSP00000492677.1:n.*133C>T
ENST00000262493.10:c.735C>T	ENSP00000262493.6:p.His245=
ENST00000568375.1:n.116-3471C>T
NM_020988.2:c.735C>T	NP_066268.1:p.His245=
XM_011523003.1:c.609C>T	XP_011521305.1:p.His203=
XM_011523003.3:c.609C>T	XP_011521305.1:p.His203=
NM_020988.3:c.735C>T MANE Select	NP_066268.1:p.His245=