Canonical Allele Identifier: CA379562279
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8089621-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089621A>T , CM000673.2:g.8089621A>T GRCh38
NC_000011.9:g.8111168A>T , CM000673.1:g.8111168A>T GRCh37
NC_000011.8:g.8067744A>T NCBI36
NG_029912.1:g.55989A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.50A>T MANE Select ENSP00000299506.3:p.Asp17Val
ENST00000299506.2:c.50A>T ENSP00000299506.2:p.Asp17Val
ENST00000305253.8:c.215A>T ENSP00000305426.4:p.Asp72Val
ENST00000534099.5:c.68A>T ENSP00000434400.1:p.Asp23Val
NM_003320.4:c.215A>T NP_003311.2:p.Asp72Val
NM_177972.2:c.50A>T NP_813977.1:p.Asp17Val
XM_005253109.2:c.176A>T XP_005253166.1:p.Asp59Val
XM_011520344.1:c.86A>T XP_011518646.1:p.Asp29Val
XM_005253109.3:c.176A>T XP_005253166.1:p.Asp59Val
XM_011520344.2:c.86A>T XP_011518646.1:p.Asp29Val
NM_177972.3:c.50A>T MANE Select NP_813977.1:p.Asp17Val
NM_003320.5:c.215A>T NP_003311.2:p.Asp72Val