Canonical Allele Identifier: CA2612334001

Linked Data

gnomAD v4: 11-8101763-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101763C>G , CM000673.2:g.8101763C>G GRCh38
NC_000011.9:g.8123310C>G , CM000673.1:g.8123310C>G GRCh37
NC_000011.8:g.8079886C>G NCBI36
NG_029912.1:g.68131C>G
NG_030416.2:g.72281G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.*144C>G (TUB) MANE Select ENSP00000299506.3:n.*144C>G
ENST00000299506.2:c.*144C>G (TUB) ENSP00000299506.2:n.*144C>G
ENST00000305253.8:c.*144C>G (TUB) ENSP00000305426.4:n.*144C>G
ENST00000534099.5:c.*144C>G (TUB) ENSP00000434400.1:n.*144C>G
NM_003320.4:c.*144C>G (TUB) NP_003311.2:n.*144C>G
NM_177972.2:c.*144C>G (TUB) NP_813977.1:n.*144C>G
XM_005253109.2:c.*144C>G (TUB) XP_005253166.1:n.*144C>G
XM_011520344.1:c.*144C>G (TUB) XP_011518646.1:n.*144C>G
XR_428851.2:n.1484-7604G>C (RIC3)
XR_930896.1:n.1546+5572G>C (RIC3)
XR_930900.1:n.1547-4041G>C (RIC3)
NR_144485.1:n.1519+5572G>C (RIC3)
XM_005253109.3:c.*144C>G (TUB) XP_005253166.1:n.*144C>G
XM_011520344.2:c.*144C>G (TUB) XP_011518646.1:n.*144C>G
XR_001747957.2:n.1335-7604G>C (RIC3)
XR_428851.4:n.1422-7604G>C (RIC3)
XR_930896.3:n.1484+5572G>C (RIC3)
XR_930900.3:n.1485-4041G>C (RIC3)
NM_177972.3:c.*144C>G (TUB) MANE Select NP_813977.1:n.*144C>G
NR_144485.2:n.1450+5572G>C (RIC3)
NM_003320.5:c.*144C>G (TUB) NP_003311.2:n.*144C>G