Canonical Allele Identifier: CA147787
Gene: RGS9 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.65225096G>A
GRCh37 chr17:g.63221214G>A
Revel Score:
ENST00000262406 (MANE Select) 0.047
ENST00000449996 0.047
gnomAD v2:
17:63221214 G / A
gnomAD v3:
17:65225096 G / A
gnomAD v4:
chr17-65225096-G-A
Joint Max Group AF 0.0210791 (NFE)
Genomes Max Group AF 0.01865544 (NFE)
Exomes Max Group AF 0.02117978 (NFE)
ClinVar RCV:
RCV000080351
RCV001519931
ClinVar Variation:
94379
dbSNP:
34797451
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.65225096G>A , CM000679.2:g.65225096G>A GRCh38
NC_000017.10:g.63221214G>A , CM000679.1:g.63221214G>A GRCh37
NC_000017.9:g.60651676G>A NCBI36
NG_013021.1:g.92759G>A
NG_013021.2:g.92759G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262406.10:c.1502G>A MANE Select ENSP00000262406.9:p.Arg501His
ENST00000635833.1:c.1502G>A ENSP00000490658.1:p.Arg501His
ENST00000262406.9:c.1502G>A ENSP00000262406.9:p.Arg501His
ENST00000443584.7:c.1493G>A ENSP00000405814.3:p.Arg498His
ENST00000449996.7:c.1493G>A ENSP00000396329.3:p.Arg498His
ENST00000577595.1:n.1430G>A
ENST00000584234.5:c.*21G>A ENSP00000463410.1:n.*21G>A
NM_001081955.2:c.1493G>A NP_001075424.1:p.Arg498His
NM_003835.3:c.1502G>A NP_003826.2:p.Arg501His
XM_011525426.1:c.914G>A XP_011523728.1:p.Arg305His
XM_011525426.3:c.914G>A XP_011523728.1:p.Arg305His
NM_003835.4:c.1502G>A MANE Select NP_003826.2:p.Arg501His
NM_001081955.3:c.1493G>A NP_001075424.1:p.Arg498His
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