Canonical Allele Identifier: CA2612334745

Gene: TUB RIC3

Linked Data

• gnomAD v4: 11-8101936-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101936G>T , CM000673.2:g.8101936G>T	GRCh38
NC_000011.9:g.8123483G>T , CM000673.1:g.8123483G>T	GRCh37
NC_000011.8:g.8080059G>T	NCBI36
NG_029912.1:g.68304G>T
NG_030416.2:g.72108C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*317G>T (TUB) MANE Select	ENSP00000299506.3:n.*317G>T
ENST00000299506.2:c.*317G>T (TUB)	ENSP00000299506.2:n.*317G>T
ENST00000305253.8:c.*317G>T (TUB)	ENSP00000305426.4:n.*317G>T
NM_003320.4:c.*317G>T (TUB)	NP_003311.2:n.*317G>T
NM_177972.2:c.*317G>T (TUB)	NP_813977.1:n.*317G>T
XM_005253109.2:c.*317G>T (TUB)	XP_005253166.1:n.*317G>T
XM_011520344.1:c.*317G>T (TUB)	XP_011518646.1:n.*317G>T
XR_428851.2:n.1484-7777C>A (RIC3)
XR_930896.1:n.1546+5399C>A (RIC3)
XR_930900.1:n.1547-4214C>A (RIC3)
NR_144485.1:n.1519+5399C>A (RIC3)
XM_005253109.3:c.*317G>T (TUB)	XP_005253166.1:n.*317G>T
XM_011520344.2:c.*317G>T (TUB)	XP_011518646.1:n.*317G>T
XR_001747957.2:n.1335-7777C>A (RIC3)
XR_428851.4:n.1422-7777C>A (RIC3)
XR_930896.3:n.1484+5399C>A (RIC3)
XR_930900.3:n.1485-4214C>A (RIC3)
NM_177972.3:c.*317G>T (TUB) MANE Select	NP_813977.1:n.*317G>T
NR_144485.2:n.1450+5399C>A (RIC3)
NM_003320.5:c.*317G>T (TUB)	NP_003311.2:n.*317G>T