Canonical Allele Identifier: CA1950968233

Linked Data

dbSNP Id: rs1944319426
gnomAD v4: 11-8101800-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101800G>A , CM000673.2:g.8101800G>A GRCh38
NC_000011.9:g.8123347G>A , CM000673.1:g.8123347G>A GRCh37
NC_000011.8:g.8079923G>A NCBI36
NG_029912.1:g.68168G>A
NG_030416.2:g.72244C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.*181G>A (TUB) MANE Select ENSP00000299506.3:n.*181G>A
ENST00000299506.2:c.*181G>A (TUB) ENSP00000299506.2:n.*181G>A
ENST00000305253.8:c.*181G>A (TUB) ENSP00000305426.4:n.*181G>A
NM_003320.4:c.*181G>A (TUB) NP_003311.2:n.*181G>A
NM_177972.2:c.*181G>A (TUB) NP_813977.1:n.*181G>A
XM_005253109.2:c.*181G>A (TUB) XP_005253166.1:n.*181G>A
XM_011520344.1:c.*181G>A (TUB) XP_011518646.1:n.*181G>A
XR_428851.2:n.1484-7641C>T (RIC3)
XR_930896.1:n.1546+5535C>T (RIC3)
XR_930900.1:n.1547-4078C>T (RIC3)
NR_144485.1:n.1519+5535C>T (RIC3)
XM_005253109.3:c.*181G>A (TUB) XP_005253166.1:n.*181G>A
XM_011520344.2:c.*181G>A (TUB) XP_011518646.1:n.*181G>A
XR_001747957.2:n.1335-7641C>T (RIC3)
XR_428851.4:n.1422-7641C>T (RIC3)
XR_930896.3:n.1484+5535C>T (RIC3)
XR_930900.3:n.1485-4078C>T (RIC3)
NM_177972.3:c.*181G>A (TUB) MANE Select NP_813977.1:n.*181G>A
NR_144485.2:n.1450+5535C>T (RIC3)
NM_003320.5:c.*181G>A (TUB) NP_003311.2:n.*181G>A