Canonical Allele Identifier: CA622305025

Gene: GNAO1

Linked Data

• dbSNP Id: rs1443762191
• gnomAD v2: 16-56370944-T-C
• gnomAD v3: 16-56337032-T-C
• gnomAD v4: 16-56337032-T-C
• MyVariant Identifiers: chr16:g.56370944T>C (hg19) ; chr16:g.56337032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56337032T>C , CM000678.2:g.56337032T>C	GRCh38
NC_000016.9:g.56370944T>C , CM000678.1:g.56370944T>C	GRCh37
NC_000016.8:g.54928445T>C	NCBI36
NG_042800.1:g.150694T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.723+172T>C	ENSP00000262494.7:n.723+172T>C
ENST00000262493.12:c.723+172T>C MANE Select	ENSP00000262493.6:n.723+172T>C
ENST00000262494.12:c.723+172T>C	ENSP00000262494.7:n.723+172T>C
ENST00000562316.6:c.390+172T>C	ENSP00000457238.2:n.390+172T>C
ENST00000564727.2:c.27+172T>C	ENSP00000454971.2:n.27+172T>C
ENST00000568375.2:c.115+172T>C
ENST00000638185.1:n.938+172T>C
ENST00000638210.1:n.1023+172T>C
ENST00000638705.1:c.723+172T>C	ENSP00000491223.1:n.723+172T>C
ENST00000638836.1:n.633+172T>C
ENST00000639055.1:n.1444+172T>C
ENST00000639251.1:n.624+172T>C
ENST00000639268.1:c.358+172T>C
ENST00000639341.1:c.248+172T>C
ENST00000639770.1:c.761+172T>C	ENSP00000491999.1:n.761+172T>C
ENST00000640390.1:n.653+172T>C
ENST00000640469.1:c.87+172T>C	ENSP00000491875.1:n.87+172T>C
ENST00000640560.1:n.499+172T>C
ENST00000640893.1:c.*121+172T>C	ENSP00000492677.1:n.*121+172T>C
ENST00000262493.10:c.723+172T>C	ENSP00000262493.6:n.723+172T>C
ENST00000262494.11:c.723+172T>C	ENSP00000262494.7:n.723+172T>C
ENST00000568375.1:n.115+172T>C
NM_020988.2:c.723+172T>C	NP_066268.1:n.723+172T>C
NM_138736.2:c.723+172T>C	NP_620073.2:n.723+172T>C
XM_011523003.1:c.597+172T>C	XP_011521305.1:n.597+172T>C
XM_011523003.3:c.597+172T>C	XP_011521305.1:n.597+172T>C
NM_020988.3:c.723+172T>C MANE Select	NP_066268.1:n.723+172T>C
NM_138736.3:c.723+172T>C	NP_620073.2:n.723+172T>C