Canonical Allele Identifier: CA2612334995

Linked Data

gnomAD v4: 11-8102054-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8102054C>T , CM000673.2:g.8102054C>T GRCh38
NC_000011.9:g.8123601C>T , CM000673.1:g.8123601C>T GRCh37
NC_000011.8:g.8080177C>T NCBI36
NG_029912.1:g.68422C>T
NG_030416.2:g.71990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*435C>T (TUB) MANE Select ENSP00000299506.3:n.*435C>T
ENST00000305253.8:c.*435C>T (TUB) ENSP00000305426.4:n.*435C>T
NM_003320.4:c.*435C>T (TUB) NP_003311.2:n.*435C>T
NM_177972.2:c.*435C>T (TUB) NP_813977.1:n.*435C>T
XM_005253109.2:c.*435C>T (TUB) XP_005253166.1:n.*435C>T
XM_011520344.1:c.*435C>T (TUB) XP_011518646.1:n.*435C>T
XR_428851.2:n.1484-7895G>A (RIC3)
XR_930896.1:n.1546+5281G>A (RIC3)
XR_930900.1:n.1547-4332G>A (RIC3)
NR_144485.1:n.1519+5281G>A (RIC3)
XM_005253109.3:c.*435C>T (TUB) XP_005253166.1:n.*435C>T
XM_011520344.2:c.*435C>T (TUB) XP_011518646.1:n.*435C>T
XR_001747957.2:n.1335-7895G>A (RIC3)
XR_428851.4:n.1422-7895G>A (RIC3)
XR_930896.3:n.1484+5281G>A (RIC3)
XR_930900.3:n.1485-4332G>A (RIC3)
NM_177972.3:c.*435C>T (TUB) MANE Select NP_813977.1:n.*435C>T
NR_144485.2:n.1450+5281G>A (RIC3)
NM_003320.5:c.*435C>T (TUB) NP_003311.2:n.*435C>T