Canonical Allele Identifier: CA395952360

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336831-G-T
• MyVariant Identifiers: chr16:g.56370743G>T (hg19) ; chr16:g.56336831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336831G>T , CM000678.2:g.56336831G>T	GRCh38
NC_000016.9:g.56370743G>T , CM000678.1:g.56370743G>T	GRCh37
NC_000016.8:g.54928244G>T	NCBI36
NG_042800.1:g.150493G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.694G>T	ENSP00000262494.7:p.Asp232Tyr
ENST00000262493.12:c.694G>T MANE Select	ENSP00000262493.6:p.Asp232Tyr
ENST00000262494.12:c.694G>T	ENSP00000262494.7:p.Asp232Tyr
ENST00000562316.6:c.361G>T	ENSP00000457238.2:p.Asp121Tyr
ENST00000568375.2:c.86G>T
ENST00000638185.1:n.909G>T
ENST00000638210.1:n.994G>T
ENST00000638705.1:c.694G>T	ENSP00000491223.1:p.Asp232Tyr
ENST00000638836.1:n.604G>T
ENST00000639055.1:n.1415G>T
ENST00000639251.1:n.595G>T
ENST00000639268.1:c.329G>T
ENST00000639341.1:c.219G>T
ENST00000639770.1:c.732G>T	ENSP00000491999.1:n.732G>T
ENST00000640390.1:n.624G>T
ENST00000640469.1:c.58G>T	ENSP00000491875.1:p.Asp20Tyr
ENST00000640560.1:n.470G>T
ENST00000640893.1:c.*92G>T	ENSP00000492677.1:n.*92G>T
ENST00000262493.10:c.694G>T	ENSP00000262493.6:p.Asp232Tyr
ENST00000262494.11:c.694G>T	ENSP00000262494.7:p.Asp232Tyr
ENST00000568375.1:n.86G>T
NM_020988.2:c.694G>T	NP_066268.1:p.Asp232Tyr
NM_138736.2:c.694G>T	NP_620073.2:p.Asp232Tyr
XM_011523003.1:c.568G>T	XP_011521305.1:p.Asp190Tyr
XM_011523003.3:c.568G>T	XP_011521305.1:p.Asp190Tyr
NM_020988.3:c.694G>T MANE Select	NP_066268.1:p.Asp232Tyr
NM_138736.3:c.694G>T	NP_620073.2:p.Asp232Tyr