Canonical Allele Identifier: CA587153189

Gene: RIGI

Linked Data

• dbSNP Id: rs1250389206
• gnomAD v2: 9-32523817-T-G
• gnomAD v3: 9-32523819-T-G
• gnomAD v4: 9-32523819-T-G
• MyVariant Identifiers: chr9:g.32523817T>G (hg19) ; chr9:g.32523819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32523819T>G , CM000671.2:g.32523819T>G	GRCh38
NC_000009.11:g.32523817T>G , CM000671.1:g.32523817T>G	GRCh37
NC_000009.10:g.32513817T>G	NCBI36
NG_046918.1:g.7506A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379868.6:c.106+2242A>C	ENSP00000369197.2:n.106+2242A>C
ENST00000379883.3:c.106+2242A>C MANE Select	ENSP00000369213.2:n.106+2242A>C
ENST00000679662.1:n.104+2242A>C
ENST00000679771.1:c.106+2242A>C	ENSP00000505015.1:n.106+2242A>C
ENST00000679859.1:c.106+2242A>C	ENSP00000505702.1:n.106+2242A>C
ENST00000680198.1:c.199-22883A>C	ENSP00000505143.1:n.199-22883A>C
ENST00000680733.1:c.110+2238A>C	ENSP00000504892.1:n.110+2238A>C
ENST00000680883.1:n.104+2242A>C
ENST00000681750.1:c.-44-22880A>C	ENSP00000506413.1:n.-44-22880A>C
ENST00000379868.5:c.-356+2242A>C	ENSP00000369197.1:n.-356+2242A>C
ENST00000379883.2:c.106+2242A>C	ENSP00000369213.2:n.106+2242A>C
NM_014314.3:c.106+2242A>C	NP_055129.2:n.106+2242A>C
NM_014314.4:c.106+2242A>C MANE Select	NP_055129.2:n.106+2242A>C
NM_001385907.1:c.106+2242A>C	NP_001372836.1:n.106+2242A>C
NM_001385909.1:c.106+2242A>C	NP_001372838.1:n.106+2242A>C
NM_001385910.1:c.-349+2242A>C	NP_001372839.1:n.-349+2242A>C
NM_001385912.1:c.-356+2242A>C	NP_001372841.1:n.-356+2242A>C
NM_001385913.1:c.106+2242A>C	NP_001372842.1:n.106+2242A>C
NM_001385914.1:c.-349+2242A>C	NP_001372843.1:n.-349+2242A>C