Canonical Allele Identifier: CA13408718

Linked Data

dbSNP Id: rs2272383

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8101952G>A , CM000673.2:g.8101952G>A GRCh38
NC_000011.9:g.8123499G>A , CM000673.1:g.8123499G>A GRCh37
NC_000011.8:g.8080075G>A NCBI36
NG_029912.1:g.68320G>A
NG_030416.2:g.72092C>T

Transcript Alleles

HGVS Amino-acid change
NM_003320.4:c.*333G>A (TUB) NP_003311.2:p.=
NM_177972.2:c.*333G>A (TUB) NP_813977.1:p.=
XM_005253109.2:c.*333G>A (TUB) XP_005253166.1:p.=
XM_011520344.1:c.*333G>A (TUB) XP_011518646.1:p.=
XR_428851.2:n.1484-7793C>T (RIC3)
XR_930896.1:n.1546+5383C>T (RIC3)
XR_930900.1:n.1547-4230C>T (RIC3)
NR_144485.1:n.1519+5383C>T (RIC3)
XM_005253109.3:c.*333G>A (TUB) XP_005253166.1:p.=
XM_011520344.2:c.*333G>A (TUB) XP_011518646.1:p.=
XR_001747957.2:n.1335-7793C>T (RIC3)
XR_428851.4:n.1422-7793C>T (RIC3)
XR_930896.3:n.1484+5383C>T (RIC3)
XR_930900.3:n.1485-4230C>T (RIC3)
NM_177972.3:c.*333G>A (TUB) NP_813977.1:p.=
NR_144485.2:n.1450+5383C>T (RIC3)
NM_003320.5:c.*333G>A (TUB) NP_003311.2:p.=
ENST00000299506.2:c.*333G>A ENSP00000299506.2:p.=
ENST00000305253.8:c.*333G>A ENSP00000305426.4:p.=