Canonical Allele Identifier: CA2612334022

Linked Data

gnomAD v4: 11-8101780-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101780T>G , CM000673.2:g.8101780T>G GRCh38
NC_000011.9:g.8123327T>G , CM000673.1:g.8123327T>G GRCh37
NC_000011.8:g.8079903T>G NCBI36
NG_029912.1:g.68148T>G
NG_030416.2:g.72264A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.*161T>G (TUB) MANE Select ENSP00000299506.3:n.*161T>G
ENST00000299506.2:c.*161T>G (TUB) ENSP00000299506.2:n.*161T>G
ENST00000305253.8:c.*161T>G (TUB) ENSP00000305426.4:n.*161T>G
ENST00000534099.5:c.*161T>G (TUB) ENSP00000434400.1:n.*161T>G
NM_003320.4:c.*161T>G (TUB) NP_003311.2:n.*161T>G
NM_177972.2:c.*161T>G (TUB) NP_813977.1:n.*161T>G
XM_005253109.2:c.*161T>G (TUB) XP_005253166.1:n.*161T>G
XM_011520344.1:c.*161T>G (TUB) XP_011518646.1:n.*161T>G
XR_428851.2:n.1484-7621A>C (RIC3)
XR_930896.1:n.1546+5555A>C (RIC3)
XR_930900.1:n.1547-4058A>C (RIC3)
NR_144485.1:n.1519+5555A>C (RIC3)
XM_005253109.3:c.*161T>G (TUB) XP_005253166.1:n.*161T>G
XM_011520344.2:c.*161T>G (TUB) XP_011518646.1:n.*161T>G
XR_001747957.2:n.1335-7621A>C (RIC3)
XR_428851.4:n.1422-7621A>C (RIC3)
XR_930896.3:n.1484+5555A>C (RIC3)
XR_930900.3:n.1485-4058A>C (RIC3)
NM_177972.3:c.*161T>G (TUB) MANE Select NP_813977.1:n.*161T>G
NR_144485.2:n.1450+5555A>C (RIC3)
NM_003320.5:c.*161T>G (TUB) NP_003311.2:n.*161T>G