Canonical Allele Identifier: CA2612333932

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101690-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101690C>T , CM000673.2:g.8101690C>T	GRCh38
NC_000011.9:g.8123237C>T , CM000673.1:g.8123237C>T	GRCh37
NC_000011.8:g.8079813C>T	NCBI36
NG_029912.1:g.68058C>T
NG_030416.2:g.72354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*71C>T (TUB) MANE Select	ENSP00000299506.3:n.*71C>T
ENST00000299506.2:c.*71C>T (TUB)	ENSP00000299506.2:n.*71C>T
ENST00000305253.8:c.*71C>T (TUB)	ENSP00000305426.4:n.*71C>T
ENST00000534099.5:c.*71C>T (TUB)	ENSP00000434400.1:n.*71C>T
NM_003320.4:c.*71C>T (TUB)	NP_003311.2:n.*71C>T
NM_177972.2:c.*71C>T (TUB)	NP_813977.1:n.*71C>T
XM_005253109.2:c.*71C>T (TUB)	XP_005253166.1:n.*71C>T
XM_011520344.1:c.*71C>T (TUB)	XP_011518646.1:n.*71C>T
XR_428851.2:n.1484-7531G>A (RIC3)
XR_930896.1:n.1546+5645G>A (RIC3)
XR_930900.1:n.1547-3968G>A (RIC3)
NR_144485.1:n.1519+5645G>A (RIC3)
XM_005253109.3:c.*71C>T (TUB)	XP_005253166.1:n.*71C>T
XM_011520344.2:c.*71C>T (TUB)	XP_011518646.1:n.*71C>T
XR_001747957.2:n.1335-7531G>A (RIC3)
XR_428851.4:n.1422-7531G>A (RIC3)
XR_930896.3:n.1484+5645G>A (RIC3)
XR_930900.3:n.1485-3968G>A (RIC3)
NM_177972.3:c.*71C>T (TUB) MANE Select	NP_813977.1:n.*71C>T
NR_144485.2:n.1450+5645G>A (RIC3)
NM_003320.5:c.*71C>T (TUB)	NP_003311.2:n.*71C>T