Canonical Allele Identifier: CA147787

Gene: RGS9

Linked Data

• ClinVar Variation Id: 94379
• ClinVar RCV Id: RCV000080351
• dbSNP Id: rs34797451
• ExAC: 17:63221214 G / A
• gnomAD v2: 17-63221214-G-A
• gnomAD v3: 17-65225096-G-A
• gnomAD v4: 17-65225096-G-A
• MyVariant Identifiers: chr17:g.63221214G>A (hg19) ; chr17:g.65225096G>A (hg38)

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