Canonical Allele Identifier: CA192341712

Gene: RIGI

Linked Data

• dbSNP Id: rs572262292
• gnomAD v3: 9-32523568-C-A
• gnomAD v4: 9-32523568-C-A
• MyVariant Identifiers: chr9:g.32523566C>A (hg19) ; chr9:g.32523568C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32523568C>A , CM000671.2:g.32523568C>A	GRCh38
NC_000009.11:g.32523566C>A , CM000671.1:g.32523566C>A	GRCh37
NC_000009.10:g.32513566C>A	NCBI36
NG_046918.1:g.7757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379868.6:c.106+2493G>T	ENSP00000369197.2:n.106+2493G>T
ENST00000379883.3:c.106+2493G>T MANE Select	ENSP00000369213.2:n.106+2493G>T
ENST00000679662.1:n.104+2493G>T
ENST00000679771.1:c.106+2493G>T	ENSP00000505015.1:n.106+2493G>T
ENST00000679859.1:c.106+2493G>T	ENSP00000505702.1:n.106+2493G>T
ENST00000680198.1:c.199-22632G>T	ENSP00000505143.1:n.199-22632G>T
ENST00000680733.1:c.110+2489G>T	ENSP00000504892.1:n.110+2489G>T
ENST00000680883.1:n.104+2493G>T
ENST00000681750.1:c.-44-22629G>T	ENSP00000506413.1:n.-44-22629G>T
ENST00000379868.5:c.-356+2493G>T	ENSP00000369197.1:n.-356+2493G>T
ENST00000379883.2:c.106+2493G>T	ENSP00000369213.2:n.106+2493G>T
NM_014314.3:c.106+2493G>T	NP_055129.2:n.106+2493G>T
NM_014314.4:c.106+2493G>T MANE Select	NP_055129.2:n.106+2493G>T
NM_001385907.1:c.106+2493G>T	NP_001372836.1:n.106+2493G>T
NM_001385909.1:c.106+2493G>T	NP_001372838.1:n.106+2493G>T
NM_001385910.1:c.-349+2493G>T	NP_001372839.1:n.-349+2493G>T
NM_001385912.1:c.-356+2493G>T	NP_001372841.1:n.-356+2493G>T
NM_001385913.1:c.106+2493G>T	NP_001372842.1:n.106+2493G>T
NM_001385914.1:c.-349+2493G>T	NP_001372843.1:n.-349+2493G>T