Canonical Allele Identifier: CA934893097

Linked Data

dbSNP Id: rs1944326989
gnomAD v3: 11-8101959-A-G
gnomAD v4: 11-8101959-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101959A>G , CM000673.2:g.8101959A>G GRCh38
NC_000011.9:g.8123506A>G , CM000673.1:g.8123506A>G GRCh37
NC_000011.8:g.8080082A>G NCBI36
NG_029912.1:g.68327A>G
NG_030416.2:g.72085T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.*340A>G (TUB) MANE Select ENSP00000299506.3:n.*340A>G
ENST00000299506.2:c.*340A>G (TUB) ENSP00000299506.2:n.*340A>G
ENST00000305253.8:c.*340A>G (TUB) ENSP00000305426.4:n.*340A>G
NM_003320.4:c.*340A>G (TUB) NP_003311.2:n.*340A>G
NM_177972.2:c.*340A>G (TUB) NP_813977.1:n.*340A>G
XM_005253109.2:c.*340A>G (TUB) XP_005253166.1:n.*340A>G
XM_011520344.1:c.*340A>G (TUB) XP_011518646.1:n.*340A>G
XR_428851.2:n.1484-7800T>C (RIC3)
XR_930896.1:n.1546+5376T>C (RIC3)
XR_930900.1:n.1547-4237T>C (RIC3)
NR_144485.1:n.1519+5376T>C (RIC3)
XM_005253109.3:c.*340A>G (TUB) XP_005253166.1:n.*340A>G
XM_011520344.2:c.*340A>G (TUB) XP_011518646.1:n.*340A>G
XR_001747957.2:n.1335-7800T>C (RIC3)
XR_428851.4:n.1422-7800T>C (RIC3)
XR_930896.3:n.1484+5376T>C (RIC3)
XR_930900.3:n.1485-4237T>C (RIC3)
NM_177972.3:c.*340A>G (TUB) MANE Select NP_813977.1:n.*340A>G
NR_144485.2:n.1450+5376T>C (RIC3)
NM_003320.5:c.*340A>G (TUB) NP_003311.2:n.*340A>G