Canonical Allele Identifier: CA2612333916

Linked Data

gnomAD v4: 11-8101670-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101670G>T , CM000673.2:g.8101670G>T GRCh38
NC_000011.9:g.8123217G>T , CM000673.1:g.8123217G>T GRCh37
NC_000011.8:g.8079793G>T NCBI36
NG_029912.1:g.68038G>T
NG_030416.2:g.72374C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*51G>T (TUB) MANE Select ENSP00000299506.3:n.*51G>T
ENST00000299506.2:c.*51G>T (TUB) ENSP00000299506.2:n.*51G>T
ENST00000305253.8:c.*51G>T (TUB) ENSP00000305426.4:n.*51G>T
ENST00000534099.5:c.*51G>T (TUB) ENSP00000434400.1:n.*51G>T
NM_003320.4:c.*51G>T (TUB) NP_003311.2:n.*51G>T
NM_177972.2:c.*51G>T (TUB) NP_813977.1:n.*51G>T
XM_005253109.2:c.*51G>T (TUB) XP_005253166.1:n.*51G>T
XM_011520344.1:c.*51G>T (TUB) XP_011518646.1:n.*51G>T
XR_428851.2:n.1484-7511C>A (RIC3)
XR_930896.1:n.1546+5665C>A (RIC3)
XR_930900.1:n.1547-3948C>A (RIC3)
NR_144485.1:n.1519+5665C>A (RIC3)
XM_005253109.3:c.*51G>T (TUB) XP_005253166.1:n.*51G>T
XM_011520344.2:c.*51G>T (TUB) XP_011518646.1:n.*51G>T
XR_001747957.2:n.1335-7511C>A (RIC3)
XR_428851.4:n.1422-7511C>A (RIC3)
XR_930896.3:n.1484+5665C>A (RIC3)
XR_930900.3:n.1485-3948C>A (RIC3)
NM_177972.3:c.*51G>T (TUB) MANE Select NP_813977.1:n.*51G>T
NR_144485.2:n.1450+5665C>A (RIC3)
NM_003320.5:c.*51G>T (TUB) NP_003311.2:n.*51G>T