Canonical Allele Identifier: CA379562771
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs749806365
gnomAD v3: 11-8090126-G-A
gnomAD v4: 11-8090126-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090126G>A , CM000673.2:g.8090126G>A GRCh38
NC_000011.9:g.8111673G>A , CM000673.1:g.8111673G>A GRCh37
NC_000011.8:g.8068249G>A NCBI36
NG_029912.1:g.56494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.148G>A MANE Select ENSP00000299506.3:p.Ala50Thr
ENST00000299506.2:c.148G>A ENSP00000299506.2:p.Ala50Thr
ENST00000305253.8:c.313G>A ENSP00000305426.4:p.Ala105Thr
ENST00000534099.5:c.166G>A ENSP00000434400.1:p.Ala56Thr
NM_003320.4:c.313G>A NP_003311.2:p.Ala105Thr
NM_177972.2:c.148G>A NP_813977.1:p.Ala50Thr
XM_005253109.2:c.274G>A XP_005253166.1:p.Ala92Thr
XM_011520344.1:c.184G>A XP_011518646.1:p.Ala62Thr
XM_005253109.3:c.274G>A XP_005253166.1:p.Ala92Thr
XM_011520344.2:c.184G>A XP_011518646.1:p.Ala62Thr
NM_177972.3:c.148G>A MANE Select NP_813977.1:p.Ala50Thr
NM_003320.5:c.313G>A NP_003311.2:p.Ala105Thr