Canonical Allele Identifier: CA379562554
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8090073-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090073C>T , CM000673.2:g.8090073C>T GRCh38
NC_000011.9:g.8111620C>T , CM000673.1:g.8111620C>T GRCh37
NC_000011.8:g.8068196C>T NCBI36
NG_029912.1:g.56441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.95C>T MANE Select ENSP00000299506.3:p.Ala32Val
ENST00000299506.2:c.95C>T ENSP00000299506.2:p.Ala32Val
ENST00000305253.8:c.260C>T ENSP00000305426.4:p.Ala87Val
ENST00000534099.5:c.113C>T ENSP00000434400.1:p.Ala38Val
NM_003320.4:c.260C>T NP_003311.2:p.Ala87Val
NM_177972.2:c.95C>T NP_813977.1:p.Ala32Val
XM_005253109.2:c.221C>T XP_005253166.1:p.Ala74Val
XM_011520344.1:c.131C>T XP_011518646.1:p.Ala44Val
XM_005253109.3:c.221C>T XP_005253166.1:p.Ala74Val
XM_011520344.2:c.131C>T XP_011518646.1:p.Ala44Val
NM_177972.3:c.95C>T MANE Select NP_813977.1:p.Ala32Val
NM_003320.5:c.260C>T NP_003311.2:p.Ala87Val