Canonical Allele Identifier: CA473009041
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1474670310
gnomAD v3: 11-8090080-G-A
gnomAD v4: 11-8090080-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090080G>A , CM000673.2:g.8090080G>A GRCh38
NC_000011.9:g.8111627G>A , CM000673.1:g.8111627G>A GRCh37
NC_000011.8:g.8068203G>A NCBI36
NG_029912.1:g.56448G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.102G>A MANE Select ENSP00000299506.3:p.Leu34=
ENST00000299506.2:c.102G>A ENSP00000299506.2:p.Leu34=
ENST00000305253.8:c.267G>A ENSP00000305426.4:p.Leu89=
ENST00000534099.5:c.120G>A ENSP00000434400.1:p.Leu40=
NM_003320.4:c.267G>A NP_003311.2:p.Leu89=
NM_177972.2:c.102G>A NP_813977.1:p.Leu34=
XM_005253109.2:c.228G>A XP_005253166.1:p.Leu76=
XM_011520344.1:c.138G>A XP_011518646.1:p.Leu46=
XM_005253109.3:c.228G>A XP_005253166.1:p.Leu76=
XM_011520344.2:c.138G>A XP_011518646.1:p.Leu46=
NM_177972.3:c.102G>A MANE Select NP_813977.1:p.Leu34=
NM_003320.5:c.267G>A NP_003311.2:p.Leu89=