Canonical Allele Identifier: CA680727324

Gene: TUB RIC3

Linked Data

• dbSNP Id: rs1167764929
• gnomAD v4: 11-8101792-T-C
• MyVariant Identifiers: chr11:g.8123339T>C (hg19) ; chr11:g.8101792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8101792T>C , CM000673.2:g.8101792T>C	GRCh38
NC_000011.9:g.8123339T>C , CM000673.1:g.8123339T>C	GRCh37
NC_000011.8:g.8079915T>C	NCBI36
NG_029912.1:g.68160T>C
NG_030416.2:g.72252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.*173T>C (TUB) MANE Select	ENSP00000299506.3:n.*173T>C
ENST00000299506.2:c.*173T>C (TUB)	ENSP00000299506.2:n.*173T>C
ENST00000305253.8:c.*173T>C (TUB)	ENSP00000305426.4:n.*173T>C
NM_003320.4:c.*173T>C (TUB)	NP_003311.2:n.*173T>C
NM_177972.2:c.*173T>C (TUB)	NP_813977.1:n.*173T>C
XM_005253109.2:c.*173T>C (TUB)	XP_005253166.1:n.*173T>C
XM_011520344.1:c.*173T>C (TUB)	XP_011518646.1:n.*173T>C
XR_428851.2:n.1484-7633A>G (RIC3)
XR_930896.1:n.1546+5543A>G (RIC3)
XR_930900.1:n.1547-4070A>G (RIC3)
NR_144485.1:n.1519+5543A>G (RIC3)
XM_005253109.3:c.*173T>C (TUB)	XP_005253166.1:n.*173T>C
XM_011520344.2:c.*173T>C (TUB)	XP_011518646.1:n.*173T>C
XR_001747957.2:n.1335-7633A>G (RIC3)
XR_428851.4:n.1422-7633A>G (RIC3)
XR_930896.3:n.1484+5543A>G (RIC3)
XR_930900.3:n.1485-4070A>G (RIC3)
NM_177972.3:c.*173T>C (TUB) MANE Select	NP_813977.1:n.*173T>C
NR_144485.2:n.1450+5543A>G (RIC3)
NM_003320.5:c.*173T>C (TUB)	NP_003311.2:n.*173T>C