Canonical Allele Identifier: CA597331738
Gene: RIC3 HGNC NCBI

Linked Data

dbSNP Id: rs1268061758
gnomAD v2: 11-8149761-C-T
gnomAD v4: 11-8128214-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8128214C>T , CM000673.2:g.8128214C>T GRCh38
NC_000011.9:g.8149761C>T , CM000673.1:g.8149761C>T GRCh37
NC_000011.8:g.8106337C>T NCBI36
NG_030416.1:g.45830G>A
NG_030416.2:g.45830G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000699457.1:n.259G>A
ENST00000309737.11:c.522-1407G>A MANE Select ENSP00000308820.6:n.522-1407G>A
ENST00000309737.10:c.522-1407G>A ENSP00000308820.6:n.522-1407G>A
ENST00000335425.7:c.125-17077G>A ENSP00000333988.7:n.125-17077G>A
ENST00000343202.8:c.522-1410G>A ENSP00000344904.4:n.522-1410G>A
ENST00000425599.6:c.427+10058G>A ENSP00000395320.2:n.427+10058G>A
ENST00000524799.5:n.383-1410G>A
ENST00000526962.1:c.125-1410G>A ENSP00000434787.1:n.125-1410G>A
ENST00000528463.5:c.*439-1407G>A ENSP00000435244.1:n.*439-1407G>A
ENST00000530060.5:n.737+5G>A
ENST00000531450.1:c.522-1323G>A ENSP00000431658.1:n.522-1323G>A
NM_001135109.2:c.125-17077G>A NP_001128581.1:n.125-17077G>A
NM_001206671.2:c.522-1407G>A NP_001193600.1:n.522-1407G>A
NM_001206672.2:c.427+10058G>A NP_001193601.1:n.427+10058G>A
NM_024557.4:c.522-1410G>A NP_078833.3:n.522-1410G>A
NR_045405.1:n.625-1407G>A
XM_006718317.2:c.522-1323G>A XP_006718380.1:n.522-1323G>A
XM_006718318.2:c.522-1410G>A XP_006718381.1:n.522-1410G>A
XR_428848.2:n.616-1323G>A
XR_428851.2:n.616-1323G>A
XR_930896.1:n.616-1323G>A
XR_930897.1:n.616-1323G>A
XR_930898.1:n.616-1323G>A
XR_930899.1:n.616-1323G>A
XR_930900.1:n.616-1323G>A
XR_930901.1:n.616-1407G>A
XR_930902.1:n.616-1410G>A
XR_930903.1:n.617-1407G>A
XR_930904.1:n.674+5G>A
XR_930905.1:n.737+5G>A
XR_930906.1:n.751+5G>A
NM_001135109.3:c.125-17077G>A NP_001128581.1:n.125-17077G>A
NM_001206671.3:c.522-1407G>A NP_001193600.1:n.522-1407G>A
NM_001206672.3:c.427+10058G>A NP_001193601.1:n.427+10058G>A
NM_001346690.1:c.38+5G>A NP_001333619.1:n.38+5G>A
NM_001346691.1:c.521+9164G>A NP_001333620.1:n.521+9164G>A
NM_001346692.1:c.375-1410G>A NP_001333621.1:n.375-1410G>A
NM_001346693.1:c.375-1323G>A NP_001333622.1:n.375-1323G>A
NM_001346694.1:c.375-1407G>A NP_001333623.1:n.375-1407G>A
NM_024557.5:c.522-1410G>A NP_078833.3:n.522-1410G>A
NR_144484.1:n.533-1410G>A
NR_144485.1:n.676-1410G>A
NR_144497.1:n.230-1410G>A
XM_006718317.4:c.522-1323G>A XP_006718380.1:n.522-1323G>A
XM_006718318.4:c.522-1410G>A XP_006718381.1:n.522-1410G>A
XM_017018287.2:c.522-1323G>A XP_016873776.1:n.522-1323G>A
XM_024448684.1:c.375-1410G>A XP_024304452.1:n.375-1410G>A
XM_024448685.1:c.*39+5G>A XP_024304453.1:n.*39+5G>A
XM_024448686.1:c.*39+5G>A XP_024304454.1:n.*39+5G>A
XR_001747957.2:n.554-1410G>A
XR_001747959.2:n.2294+5G>A
XR_002957192.1:n.554-1410G>A
XR_002957193.1:n.554-1410G>A
XR_002957194.1:n.622-1323G>A
XR_002957195.1:n.553+9164G>A
XR_428848.4:n.554-1323G>A
XR_428851.4:n.554-1323G>A
XR_930896.3:n.554-1323G>A
XR_930897.3:n.554-1323G>A
XR_930898.3:n.554-1323G>A
XR_930900.3:n.554-1323G>A
XR_930901.3:n.554-1407G>A
XR_930903.3:n.622-1407G>A
XR_930904.3:n.2294+5G>A
XR_930905.3:n.2357+5G>A
NM_001206671.4:c.522-1407G>A MANE Select NP_001193600.1:n.522-1407G>A
NM_001135109.4:c.125-17077G>A NP_001128581.1:n.125-17077G>A
NM_001206672.4:c.427+10058G>A NP_001193601.1:n.427+10058G>A
NM_001346690.2:c.38+5G>A NP_001333619.1:n.38+5G>A
NM_001346691.2:c.521+9164G>A NP_001333620.1:n.521+9164G>A
NM_001346692.2:c.375-1410G>A NP_001333621.1:n.375-1410G>A
NM_001346693.2:c.375-1323G>A NP_001333622.1:n.375-1323G>A
NM_001346694.2:c.375-1407G>A NP_001333623.1:n.375-1407G>A
NM_024557.6:c.522-1410G>A NP_078833.3:n.522-1410G>A
NR_144484.2:n.464-1410G>A
NR_144485.2:n.607-1410G>A
NR_144497.2:n.161-1410G>A