Canonical Allele Identifier: CA2612333997

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101760-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101760C>T , CM000673.2:g.8101760C>T	GRCh38
NC_000011.9:g.8123307C>T , CM000673.1:g.8123307C>T	GRCh37
NC_000011.8:g.8079883C>T	NCBI36
NG_029912.1:g.68128C>T
NG_030416.2:g.72284G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*141C>T (TUB) MANE Select	ENSP00000299506.3:n.*141C>T
ENST00000299506.2:c.*141C>T (TUB)	ENSP00000299506.2:n.*141C>T
ENST00000305253.8:c.*141C>T (TUB)	ENSP00000305426.4:n.*141C>T
ENST00000534099.5:c.*141C>T (TUB)	ENSP00000434400.1:n.*141C>T
NM_003320.4:c.*141C>T (TUB)	NP_003311.2:n.*141C>T
NM_177972.2:c.*141C>T (TUB)	NP_813977.1:n.*141C>T
XM_005253109.2:c.*141C>T (TUB)	XP_005253166.1:n.*141C>T
XM_011520344.1:c.*141C>T (TUB)	XP_011518646.1:n.*141C>T
XR_428851.2:n.1484-7601G>A (RIC3)
XR_930896.1:n.1546+5575G>A (RIC3)
XR_930900.1:n.1547-4038G>A (RIC3)
NR_144485.1:n.1519+5575G>A (RIC3)
XM_005253109.3:c.*141C>T (TUB)	XP_005253166.1:n.*141C>T
XM_011520344.2:c.*141C>T (TUB)	XP_011518646.1:n.*141C>T
XR_001747957.2:n.1335-7601G>A (RIC3)
XR_428851.4:n.1422-7601G>A (RIC3)
XR_930896.3:n.1484+5575G>A (RIC3)
XR_930900.3:n.1485-4038G>A (RIC3)
NM_177972.3:c.*141C>T (TUB) MANE Select	NP_813977.1:n.*141C>T
NR_144485.2:n.1450+5575G>A (RIC3)
NM_003320.5:c.*141C>T (TUB)	NP_003311.2:n.*141C>T