Canonical Allele Identifier: CA281442207

Gene: GNAO1

Linked Data

• dbSNP Id: rs529756606
• gnomAD v2: 16-56388968-T-C
• gnomAD v3: 16-56355056-T-C
• gnomAD v4: 16-56355056-T-C
• MyVariant Identifiers: chr16:g.56388968T>C (hg19) ; chr16:g.56355056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355056T>C , CM000678.2:g.56355056T>C	GRCh38
NC_000016.9:g.56388968T>C , CM000678.1:g.56388968T>C	GRCh37
NC_000016.8:g.54946469T>C	NCBI36
NG_042800.1:g.168718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.*3T>C MANE Select	ENSP00000262493.6:n.*3T>C
ENST00000562316.6:c.545-1047T>C	ENSP00000457238.2:n.545-1047T>C
ENST00000564727.2:c.303+69T>C	ENSP00000454971.2:n.303+69T>C
ENST00000568375.2:c.306T>C
ENST00000638210.1:n.1368T>C
ENST00000638705.1:c.*3T>C	ENSP00000491223.1:n.*3T>C
ENST00000638836.1:n.978T>C
ENST00000639251.1:n.969T>C
ENST00000639268.1:c.703T>C
ENST00000639341.1:c.593T>C
ENST00000639770.1:c.1106T>C	ENSP00000491999.1:n.1106T>C
ENST00000640390.1:n.998T>C
ENST00000640469.1:c.432T>C	ENSP00000491875.1:n.432T>C
ENST00000640560.1:n.844T>C
ENST00000640893.1:c.*466T>C	ENSP00000492677.1:n.*466T>C
ENST00000262493.10:c.*3T>C	ENSP00000262493.6:n.*3T>C
ENST00000564727.1:c.288T>C	ENSP00000454971.1:n.288T>C
ENST00000568375.1:n.306T>C
NM_020988.2:c.*3T>C	NP_066268.1:n.*3T>C
XM_011523003.1:c.*3T>C	XP_011521305.1:n.*3T>C
XM_011523003.3:c.*3T>C	XP_011521305.1:n.*3T>C
NM_020988.3:c.*3T>C MANE Select	NP_066268.1:n.*3T>C