Canonical Allele Identifier: CA934893068

Linked Data

gnomAD v3: 11-8101859-A-C
gnomAD v4: 11-8101859-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101859A>C , CM000673.2:g.8101859A>C GRCh38
NC_000011.9:g.8123406A>C , CM000673.1:g.8123406A>C GRCh37
NC_000011.8:g.8079982A>C NCBI36
NG_029912.1:g.68227A>C
NG_030416.2:g.72185T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.*240A>C (TUB) MANE Select ENSP00000299506.3:n.*240A>C
ENST00000299506.2:c.*240A>C (TUB) ENSP00000299506.2:n.*240A>C
ENST00000305253.8:c.*240A>C (TUB) ENSP00000305426.4:n.*240A>C
NM_003320.4:c.*240A>C (TUB) NP_003311.2:n.*240A>C
NM_177972.2:c.*240A>C (TUB) NP_813977.1:n.*240A>C
XM_005253109.2:c.*240A>C (TUB) XP_005253166.1:n.*240A>C
XM_011520344.1:c.*240A>C (TUB) XP_011518646.1:n.*240A>C
XR_428851.2:n.1484-7700T>G (RIC3)
XR_930896.1:n.1546+5476T>G (RIC3)
XR_930900.1:n.1547-4137T>G (RIC3)
NR_144485.1:n.1519+5476T>G (RIC3)
XM_005253109.3:c.*240A>C (TUB) XP_005253166.1:n.*240A>C
XM_011520344.2:c.*240A>C (TUB) XP_011518646.1:n.*240A>C
XR_001747957.2:n.1335-7700T>G (RIC3)
XR_428851.4:n.1422-7700T>G (RIC3)
XR_930896.3:n.1484+5476T>G (RIC3)
XR_930900.3:n.1485-4137T>G (RIC3)
NM_177972.3:c.*240A>C (TUB) MANE Select NP_813977.1:n.*240A>C
NR_144485.2:n.1450+5476T>G (RIC3)
NM_003320.5:c.*240A>C (TUB) NP_003311.2:n.*240A>C