Canonical Allele Identifier: CA622304373

Gene: GNAO1

Linked Data

• dbSNP Id: rs1283559074
• gnomAD v2: 16-56368623-G-C
• MyVariant Identifiers: chr16:g.56368623G>C (hg19) ; chr16:g.56334711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334711G>C , CM000678.2:g.56334711G>C	GRCh38
NC_000016.9:g.56368623G>C , CM000678.1:g.56368623G>C	GRCh37
NC_000016.8:g.54926124G>C	NCBI36
NG_042800.1:g.148373G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.465-18G>C	ENSP00000262494.7:n.465-18G>C
ENST00000262493.12:c.465-18G>C MANE Select	ENSP00000262493.6:n.465-18G>C
ENST00000262494.12:c.465-18G>C	ENSP00000262494.7:n.465-18G>C
ENST00000562316.6:c.132-18G>C	ENSP00000457238.2:n.132-18G>C
ENST00000638185.1:n.680-18G>C
ENST00000638210.1:n.765-18G>C
ENST00000638705.1:c.465-18G>C	ENSP00000491223.1:n.465-18G>C
ENST00000638836.1:n.375-18G>C
ENST00000639055.1:n.1186-18G>C
ENST00000639251.1:n.366-18G>C
ENST00000639268.1:c.229-2020G>C
ENST00000639770.1:c.503-18G>C	ENSP00000491999.1:n.503-18G>C
ENST00000640390.1:n.395-18G>C
ENST00000640893.1:c.304-18G>C	ENSP00000492677.1:n.304-18G>C
ENST00000262493.10:c.465-18G>C	ENSP00000262493.6:n.465-18G>C
ENST00000262494.11:c.465-18G>C	ENSP00000262494.7:n.465-18G>C
ENST00000562316.5:c.204-18G>C	ENSP00000457238.1:n.204-18G>C
ENST00000563440.1:c.204-18G>C	ENSP00000455774.1:n.204-18G>C
ENST00000565363.5:c.339-18G>C	ENSP00000454728.1:n.339-18G>C
NM_020988.2:c.465-18G>C	NP_066268.1:n.465-18G>C
NM_138736.2:c.465-18G>C	NP_620073.2:n.465-18G>C
XM_011523003.1:c.339-18G>C	XP_011521305.1:n.339-18G>C
XM_011523003.3:c.339-18G>C	XP_011521305.1:n.339-18G>C
NM_020988.3:c.465-18G>C MANE Select	NP_066268.1:n.465-18G>C
NM_138736.3:c.465-18G>C	NP_620073.2:n.465-18G>C