Canonical Allele Identifier: CA5871012
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs376207354
gnomAD v2: 11-8111807-G-A
gnomAD v3: 11-8090260-G-A
gnomAD v4: 11-8090260-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090260G>A , CM000673.2:g.8090260G>A GRCh38
NC_000011.9:g.8111807G>A , CM000673.1:g.8111807G>A GRCh37
NC_000011.8:g.8068383G>A NCBI36
NG_029912.1:g.56628G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.253+29G>A MANE Select ENSP00000299506.3:n.253+29G>A
ENST00000299506.2:c.253+29G>A ENSP00000299506.2:n.253+29G>A
ENST00000305253.8:c.418+29G>A ENSP00000305426.4:n.418+29G>A
ENST00000534099.5:c.271+29G>A ENSP00000434400.1:n.271+29G>A
NM_003320.4:c.418+29G>A NP_003311.2:n.418+29G>A
NM_177972.2:c.253+29G>A NP_813977.1:n.253+29G>A
XM_005253109.2:c.379+29G>A XP_005253166.1:n.379+29G>A
XM_011520344.1:c.289+29G>A XP_011518646.1:n.289+29G>A
XM_005253109.3:c.379+29G>A XP_005253166.1:n.379+29G>A
XM_011520344.2:c.289+29G>A XP_011518646.1:n.289+29G>A
NM_177972.3:c.253+29G>A MANE Select NP_813977.1:n.253+29G>A
NM_003320.5:c.418+29G>A NP_003311.2:n.418+29G>A