Canonical Allele Identifier: CA217430702

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs900826070
• gnomAD v3: 11-8101675-C-T
• gnomAD v4: 11-8101675-C-T
• MyVariant Identifiers: chr11:g.8123222C>T (hg19) ; chr11:g.8101675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101675C>T , CM000673.2:g.8101675C>T	GRCh38
NC_000011.9:g.8123222C>T , CM000673.1:g.8123222C>T	GRCh37
NC_000011.8:g.8079798C>T	NCBI36
NG_029912.1:g.68043C>T
NG_030416.2:g.72369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*56C>T (TUB) MANE Select	ENSP00000299506.3:n.*56C>T
ENST00000299506.2:c.*56C>T (TUB)	ENSP00000299506.2:n.*56C>T
ENST00000305253.8:c.*56C>T (TUB)	ENSP00000305426.4:n.*56C>T
ENST00000534099.5:c.*56C>T (TUB)	ENSP00000434400.1:n.*56C>T
NM_003320.4:c.*56C>T (TUB)	NP_003311.2:n.*56C>T
NM_177972.2:c.*56C>T (TUB)	NP_813977.1:n.*56C>T
XM_005253109.2:c.*56C>T (TUB)	XP_005253166.1:n.*56C>T
XM_011520344.1:c.*56C>T (TUB)	XP_011518646.1:n.*56C>T
XR_428851.2:n.1484-7516G>A (RIC3)
XR_930896.1:n.1546+5660G>A (RIC3)
XR_930900.1:n.1547-3953G>A (RIC3)
NR_144485.1:n.1519+5660G>A (RIC3)
XM_005253109.3:c.*56C>T (TUB)	XP_005253166.1:n.*56C>T
XM_011520344.2:c.*56C>T (TUB)	XP_011518646.1:n.*56C>T
XR_001747957.2:n.1335-7516G>A (RIC3)
XR_428851.4:n.1422-7516G>A (RIC3)
XR_930896.3:n.1484+5660G>A (RIC3)
XR_930900.3:n.1485-3953G>A (RIC3)
NM_177972.3:c.*56C>T (TUB) MANE Select	NP_813977.1:n.*56C>T
NR_144485.2:n.1450+5660G>A (RIC3)
NM_003320.5:c.*56C>T (TUB)	NP_003311.2:n.*56C>T