Canonical Allele Identifier: CA934893075

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1944323072
• gnomAD v3: 11-8101866-C-T
• gnomAD v4: 11-8101866-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101866C>T , CM000673.2:g.8101866C>T	GRCh38
NC_000011.9:g.8123413C>T , CM000673.1:g.8123413C>T	GRCh37
NC_000011.8:g.8079989C>T	NCBI36
NG_029912.1:g.68234C>T
NG_030416.2:g.72178G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.*247C>T (TUB) MANE Select	ENSP00000299506.3:n.*247C>T
ENST00000299506.2:c.*247C>T (TUB)	ENSP00000299506.2:n.*247C>T
ENST00000305253.8:c.*247C>T (TUB)	ENSP00000305426.4:n.*247C>T
NM_003320.4:c.*247C>T (TUB)	NP_003311.2:n.*247C>T
NM_177972.2:c.*247C>T (TUB)	NP_813977.1:n.*247C>T
XM_005253109.2:c.*247C>T (TUB)	XP_005253166.1:n.*247C>T
XM_011520344.1:c.*247C>T (TUB)	XP_011518646.1:n.*247C>T
XR_428851.2:n.1484-7707G>A (RIC3)
XR_930896.1:n.1546+5469G>A (RIC3)
XR_930900.1:n.1547-4144G>A (RIC3)
NR_144485.1:n.1519+5469G>A (RIC3)
XM_005253109.3:c.*247C>T (TUB)	XP_005253166.1:n.*247C>T
XM_011520344.2:c.*247C>T (TUB)	XP_011518646.1:n.*247C>T
XR_001747957.2:n.1335-7707G>A (RIC3)
XR_428851.4:n.1422-7707G>A (RIC3)
XR_930896.3:n.1484+5469G>A (RIC3)
XR_930900.3:n.1485-4144G>A (RIC3)
NM_177972.3:c.*247C>T (TUB) MANE Select	NP_813977.1:n.*247C>T
NR_144485.2:n.1450+5469G>A (RIC3)
NM_003320.5:c.*247C>T (TUB)	NP_003311.2:n.*247C>T