Canonical Allele Identifier: CA934894320

Gene: RIC3

Linked Data

• dbSNP Id: rs1947228915
• gnomAD v3: 11-8128277-G-A
• gnomAD v4: 11-8128277-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8128277G>A , CM000673.2:g.8128277G>A	GRCh38
NC_000011.9:g.8149824G>A , CM000673.1:g.8149824G>A	GRCh37
NC_000011.8:g.8106400G>A	NCBI36
NG_030416.1:g.45767C>T
NG_030416.2:g.45767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699457.1:n.196C>T
ENST00000309737.11:c.522-1470C>T MANE Select	ENSP00000308820.6:n.522-1470C>T
ENST00000309737.10:c.522-1470C>T	ENSP00000308820.6:n.522-1470C>T
ENST00000335425.7:c.125-17140C>T	ENSP00000333988.7:n.125-17140C>T
ENST00000343202.8:c.522-1473C>T	ENSP00000344904.4:n.522-1473C>T
ENST00000425599.6:c.427+9995C>T	ENSP00000395320.2:n.427+9995C>T
ENST00000524799.5:n.383-1473C>T
ENST00000526962.1:c.125-1473C>T	ENSP00000434787.1:n.125-1473C>T
ENST00000528463.5:c.*439-1470C>T	ENSP00000435244.1:n.*439-1470C>T
ENST00000530060.5:n.679C>T
ENST00000531450.1:c.522-1386C>T	ENSP00000431658.1:n.522-1386C>T
NM_001135109.2:c.125-17140C>T	NP_001128581.1:n.125-17140C>T
NM_001206671.2:c.522-1470C>T	NP_001193600.1:n.522-1470C>T
NM_001206672.2:c.427+9995C>T	NP_001193601.1:n.427+9995C>T
NM_024557.4:c.522-1473C>T	NP_078833.3:n.522-1473C>T
NR_045405.1:n.625-1470C>T
XM_006718317.2:c.522-1386C>T	XP_006718380.1:n.522-1386C>T
XM_006718318.2:c.522-1473C>T	XP_006718381.1:n.522-1473C>T
XR_428848.2:n.616-1386C>T
XR_428851.2:n.616-1386C>T
XR_930896.1:n.616-1386C>T
XR_930897.1:n.616-1386C>T
XR_930898.1:n.616-1386C>T
XR_930899.1:n.616-1386C>T
XR_930900.1:n.616-1386C>T
XR_930901.1:n.616-1470C>T
XR_930902.1:n.616-1473C>T
XR_930903.1:n.617-1470C>T
XR_930904.1:n.616C>T
XR_930905.1:n.679C>T
XR_930906.1:n.693C>T
NM_001135109.3:c.125-17140C>T	NP_001128581.1:n.125-17140C>T
NM_001206671.3:c.522-1470C>T	NP_001193600.1:n.522-1470C>T
NM_001206672.3:c.427+9995C>T	NP_001193601.1:n.427+9995C>T
NM_001346690.1:c.-21C>T	NP_001333619.1:n.-21C>T
NM_001346691.1:c.521+9101C>T	NP_001333620.1:n.521+9101C>T
NM_001346692.1:c.375-1473C>T	NP_001333621.1:n.375-1473C>T
NM_001346693.1:c.375-1386C>T	NP_001333622.1:n.375-1386C>T
NM_001346694.1:c.375-1470C>T	NP_001333623.1:n.375-1470C>T
NM_024557.5:c.522-1473C>T	NP_078833.3:n.522-1473C>T
NR_144484.1:n.533-1473C>T
NR_144485.1:n.676-1473C>T
NR_144497.1:n.230-1473C>T
XM_006718317.4:c.522-1386C>T	XP_006718380.1:n.522-1386C>T
XM_006718318.4:c.522-1473C>T	XP_006718381.1:n.522-1473C>T
XM_017018287.2:c.522-1386C>T	XP_016873776.1:n.522-1386C>T
XM_024448684.1:c.375-1473C>T	XP_024304452.1:n.375-1473C>T
XM_024448685.1:c.536C>T	XP_024304453.1:p.Ala179Val
XM_024448686.1:c.536C>T	XP_024304454.1:p.Ala179Val
XR_001747957.2:n.554-1473C>T
XR_001747959.2:n.2236C>T
XR_002957192.1:n.554-1473C>T
XR_002957193.1:n.554-1473C>T
XR_002957194.1:n.622-1386C>T
XR_002957195.1:n.553+9101C>T
XR_428848.4:n.554-1386C>T
XR_428851.4:n.554-1386C>T
XR_930896.3:n.554-1386C>T
XR_930897.3:n.554-1386C>T
XR_930898.3:n.554-1386C>T
XR_930900.3:n.554-1386C>T
XR_930901.3:n.554-1470C>T
XR_930903.3:n.622-1470C>T
XR_930904.3:n.2236C>T
XR_930905.3:n.2299C>T
NM_001206671.4:c.522-1470C>T MANE Select	NP_001193600.1:n.522-1470C>T
NM_001135109.4:c.125-17140C>T	NP_001128581.1:n.125-17140C>T
NM_001206672.4:c.427+9995C>T	NP_001193601.1:n.427+9995C>T
NM_001346690.2:c.-21C>T	NP_001333619.1:n.-21C>T
NM_001346691.2:c.521+9101C>T	NP_001333620.1:n.521+9101C>T
NM_001346692.2:c.375-1473C>T	NP_001333621.1:n.375-1473C>T
NM_001346693.2:c.375-1386C>T	NP_001333622.1:n.375-1386C>T
NM_001346694.2:c.375-1470C>T	NP_001333623.1:n.375-1470C>T
NM_024557.6:c.522-1473C>T	NP_078833.3:n.522-1473C>T
NR_144484.2:n.464-1473C>T
NR_144485.2:n.607-1473C>T
NR_144497.2:n.161-1473C>T