Canonical Allele Identifier: CA12954055
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs10813821
gnomAD v2: 9-32467129-G-A
gnomAD v3: 9-32467131-G-A
gnomAD v4: 9-32467131-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32467131G>A , CM000671.2:g.32467131G>A GRCh38
NC_000009.11:g.32467129G>A , CM000671.1:g.32467129G>A GRCh37
NC_000009.10:g.32457129G>A NCBI36
NG_046918.1:g.64194C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379868.6:c.2050+631C>T ENSP00000369197.2:n.2050+631C>T
ENST00000379883.3:c.2185+631C>T MANE Select ENSP00000369213.2:n.2185+631C>T
ENST00000679665.1:c.1972+631C>T ENSP00000504921.1:n.1972+631C>T
ENST00000679771.1:c.*1608+631C>T ENSP00000505015.1:n.*1608+631C>T
ENST00000679859.1:c.685+631C>T ENSP00000505702.1:n.685+631C>T
ENST00000680198.1:c.*1953+631C>T ENSP00000505143.1:n.*1953+631C>T
ENST00000680733.1:c.*1953+631C>T ENSP00000504892.1:n.*1953+631C>T
ENST00000681352.1:n.1717+631C>T
ENST00000681750.1:c.2035+631C>T ENSP00000506413.1:n.2035+631C>T
ENST00000379868.5:c.1576+631C>T ENSP00000369197.1:n.1576+631C>T
ENST00000379883.2:c.2185+631C>T ENSP00000369213.2:n.2185+631C>T
NM_014314.3:c.2185+631C>T NP_055129.2:n.2185+631C>T
XR_929552.1:n.2737+3684G>A
NM_014314.4:c.2185+631C>T MANE Select NP_055129.2:n.2185+631C>T
NM_001385907.1:c.2179+631C>T NP_001372836.1:n.2179+631C>T
NM_001385909.1:c.2015-690C>T NP_001372838.1:n.2015-690C>T
NM_001385910.1:c.1744+631C>T NP_001372839.1:n.1744+631C>T
NM_001385912.1:c.1576+631C>T NP_001372841.1:n.1576+631C>T
NM_001385913.1:c.2170+631C>T NP_001372842.1:n.2170+631C>T
NM_001385914.1:c.1741+631C>T NP_001372843.1:n.1741+631C>T