Canonical Allele Identifier: CA1950968208

Linked Data

dbSNP Id: rs1944318441
gnomAD v4: 11-8101772-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101772G>A , CM000673.2:g.8101772G>A GRCh38
NC_000011.9:g.8123319G>A , CM000673.1:g.8123319G>A GRCh37
NC_000011.8:g.8079895G>A NCBI36
NG_029912.1:g.68140G>A
NG_030416.2:g.72272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*153G>A (TUB) MANE Select ENSP00000299506.3:n.*153G>A
ENST00000299506.2:c.*153G>A (TUB) ENSP00000299506.2:n.*153G>A
ENST00000305253.8:c.*153G>A (TUB) ENSP00000305426.4:n.*153G>A
ENST00000534099.5:c.*153G>A (TUB) ENSP00000434400.1:n.*153G>A
NM_003320.4:c.*153G>A (TUB) NP_003311.2:n.*153G>A
NM_177972.2:c.*153G>A (TUB) NP_813977.1:n.*153G>A
XM_005253109.2:c.*153G>A (TUB) XP_005253166.1:n.*153G>A
XM_011520344.1:c.*153G>A (TUB) XP_011518646.1:n.*153G>A
XR_428851.2:n.1484-7613C>T (RIC3)
XR_930896.1:n.1546+5563C>T (RIC3)
XR_930900.1:n.1547-4050C>T (RIC3)
NR_144485.1:n.1519+5563C>T (RIC3)
XM_005253109.3:c.*153G>A (TUB) XP_005253166.1:n.*153G>A
XM_011520344.2:c.*153G>A (TUB) XP_011518646.1:n.*153G>A
XR_001747957.2:n.1335-7613C>T (RIC3)
XR_428851.4:n.1422-7613C>T (RIC3)
XR_930896.3:n.1484+5563C>T (RIC3)
XR_930900.3:n.1485-4050C>T (RIC3)
NM_177972.3:c.*153G>A (TUB) MANE Select NP_813977.1:n.*153G>A
NR_144485.2:n.1450+5563C>T (RIC3)
NM_003320.5:c.*153G>A (TUB) NP_003311.2:n.*153G>A