Canonical Allele Identifier: CA281440142

Gene: GNAO1

Linked Data

• dbSNP Id: rs974121115
• gnomAD v4: 16-56351744-C-T
• MyVariant Identifiers: chr16:g.56385656C>T (hg19) ; chr16:g.56351744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351744C>T , CM000678.2:g.56351744C>T	GRCh38
NC_000016.9:g.56385656C>T , CM000678.1:g.56385656C>T	GRCh37
NC_000016.8:g.54943157C>T	NCBI36
NG_042800.1:g.165406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.877+207C>T MANE Select	ENSP00000262493.6:n.877+207C>T
ENST00000562316.6:c.544+207C>T	ENSP00000457238.2:n.544+207C>T
ENST00000564727.2:c.181+207C>T	ENSP00000454971.2:n.181+207C>T
ENST00000568375.2:c.116-3122C>T
ENST00000638185.1:n.1092+207C>T
ENST00000638210.1:n.1177+207C>T
ENST00000638705.1:c.877+207C>T	ENSP00000491223.1:n.877+207C>T
ENST00000638836.1:n.787+207C>T
ENST00000639055.1:n.1598+207C>T
ENST00000639251.1:n.778+207C>T
ENST00000639268.1:c.512+207C>T
ENST00000639341.1:c.402+207C>T
ENST00000639770.1:c.915+207C>T	ENSP00000491999.1:n.915+207C>T
ENST00000640390.1:n.807+207C>T
ENST00000640469.1:c.241+207C>T	ENSP00000491875.1:n.241+207C>T
ENST00000640560.1:n.653+207C>T
ENST00000640893.1:c.*275+207C>T	ENSP00000492677.1:n.*275+207C>T
ENST00000262493.10:c.877+207C>T	ENSP00000262493.6:n.877+207C>T
ENST00000564727.1:c.97+207C>T	ENSP00000454971.1:n.97+207C>T
ENST00000568375.1:n.116-3122C>T
NM_020988.2:c.877+207C>T	NP_066268.1:n.877+207C>T
XM_011523003.1:c.751+207C>T	XP_011521305.1:n.751+207C>T
XM_011523003.3:c.751+207C>T	XP_011521305.1:n.751+207C>T
NM_020988.3:c.877+207C>T MANE Select	NP_066268.1:n.877+207C>T