Canonical Allele Identifier: CA2633315150

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336726-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336726T>C , CM000678.2:g.56336726T>C	GRCh38
NC_000016.9:g.56370638T>C , CM000678.1:g.56370638T>C	GRCh37
NC_000016.8:g.54928139T>C	NCBI36
NG_042800.1:g.150388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.594-5T>C	ENSP00000262494.7:n.594-5T>C
ENST00000262493.12:c.594-5T>C MANE Select	ENSP00000262493.6:n.594-5T>C
ENST00000262494.12:c.594-5T>C	ENSP00000262494.7:n.594-5T>C
ENST00000562316.6:c.261-5T>C	ENSP00000457238.2:n.261-5T>C
ENST00000638185.1:n.809-5T>C
ENST00000638210.1:n.894-5T>C
ENST00000638705.1:c.594-5T>C	ENSP00000491223.1:n.594-5T>C
ENST00000638836.1:n.504-5T>C
ENST00000639055.1:n.1315-5T>C
ENST00000639251.1:n.495-5T>C
ENST00000639268.1:c.229-5T>C
ENST00000639341.1:c.119-5T>C
ENST00000639770.1:c.632-5T>C	ENSP00000491999.1:n.632-5T>C
ENST00000640390.1:n.524-5T>C
ENST00000640560.1:n.365T>C
ENST00000640893.1:c.433-5T>C	ENSP00000492677.1:n.433-5T>C
ENST00000262493.10:c.594-5T>C	ENSP00000262493.6:n.594-5T>C
ENST00000262494.11:c.594-5T>C	ENSP00000262494.7:n.594-5T>C
NM_020988.2:c.594-5T>C	NP_066268.1:n.594-5T>C
NM_138736.2:c.594-5T>C	NP_620073.2:n.594-5T>C
XM_011523003.1:c.468-5T>C	XP_011521305.1:n.468-5T>C
XM_011523003.3:c.468-5T>C	XP_011521305.1:n.468-5T>C
NM_020988.3:c.594-5T>C MANE Select	NP_066268.1:n.594-5T>C
NM_138736.3:c.594-5T>C	NP_620073.2:n.594-5T>C