Canonical Allele Identifier: CA379562848
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8090145-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090145C>T , CM000673.2:g.8090145C>T GRCh38
NC_000011.9:g.8111692C>T , CM000673.1:g.8111692C>T GRCh37
NC_000011.8:g.8068268C>T NCBI36
NG_029912.1:g.56513C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.167C>T MANE Select ENSP00000299506.3:p.Pro56Leu
ENST00000299506.2:c.167C>T ENSP00000299506.2:p.Pro56Leu
ENST00000305253.8:c.332C>T ENSP00000305426.4:p.Pro111Leu
ENST00000534099.5:c.185C>T ENSP00000434400.1:p.Pro62Leu
NM_003320.4:c.332C>T NP_003311.2:p.Pro111Leu
NM_177972.2:c.167C>T NP_813977.1:p.Pro56Leu
XM_005253109.2:c.293C>T XP_005253166.1:p.Pro98Leu
XM_011520344.1:c.203C>T XP_011518646.1:p.Pro68Leu
XM_005253109.3:c.293C>T XP_005253166.1:p.Pro98Leu
XM_011520344.2:c.203C>T XP_011518646.1:p.Pro68Leu
NM_177972.3:c.167C>T MANE Select NP_813977.1:p.Pro56Leu
NM_003320.5:c.332C>T NP_003311.2:p.Pro111Leu