Canonical Allele Identifier: CA2612334826

Linked Data

gnomAD v4: 11-8101961-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101961A>C , CM000673.2:g.8101961A>C GRCh38
NC_000011.9:g.8123508A>C , CM000673.1:g.8123508A>C GRCh37
NC_000011.8:g.8080084A>C NCBI36
NG_029912.1:g.68329A>C
NG_030416.2:g.72083T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.*342A>C (TUB) MANE Select ENSP00000299506.3:n.*342A>C
ENST00000299506.2:c.*342A>C (TUB) ENSP00000299506.2:n.*342A>C
ENST00000305253.8:c.*342A>C (TUB) ENSP00000305426.4:n.*342A>C
NM_003320.4:c.*342A>C (TUB) NP_003311.2:n.*342A>C
NM_177972.2:c.*342A>C (TUB) NP_813977.1:n.*342A>C
XM_005253109.2:c.*342A>C (TUB) XP_005253166.1:n.*342A>C
XM_011520344.1:c.*342A>C (TUB) XP_011518646.1:n.*342A>C
XR_428851.2:n.1484-7802T>G (RIC3)
XR_930896.1:n.1546+5374T>G (RIC3)
XR_930900.1:n.1547-4239T>G (RIC3)
NR_144485.1:n.1519+5374T>G (RIC3)
XM_005253109.3:c.*342A>C (TUB) XP_005253166.1:n.*342A>C
XM_011520344.2:c.*342A>C (TUB) XP_011518646.1:n.*342A>C
XR_001747957.2:n.1335-7802T>G (RIC3)
XR_428851.4:n.1422-7802T>G (RIC3)
XR_930896.3:n.1484+5374T>G (RIC3)
XR_930900.3:n.1485-4239T>G (RIC3)
NM_177972.3:c.*342A>C (TUB) MANE Select NP_813977.1:n.*342A>C
NR_144485.2:n.1450+5374T>G (RIC3)
NM_003320.5:c.*342A>C (TUB) NP_003311.2:n.*342A>C