Canonical Allele Identifier: CA5870935
Gene: TUB HGNC NCBI

Linked Data

ClinVar Variation Id: 776582
ClinVar RCV Id: RCV000956906
dbSNP Id: rs61733960
gnomAD v2: 11-8111196-G-A
gnomAD v3: 11-8089649-G-A
gnomAD v4: 11-8089649-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089649G>A , CM000673.2:g.8089649G>A GRCh38
NC_000011.9:g.8111196G>A , CM000673.1:g.8111196G>A GRCh37
NC_000011.8:g.8067772G>A NCBI36
NG_029912.1:g.56017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.78G>A MANE Select ENSP00000299506.3:p.Lys26=
ENST00000299506.2:c.78G>A ENSP00000299506.2:p.Lys26=
ENST00000305253.8:c.243G>A ENSP00000305426.4:p.Lys81=
ENST00000534099.5:c.96G>A ENSP00000434400.1:p.Lys32=
NM_003320.4:c.243G>A NP_003311.2:p.Lys81=
NM_177972.2:c.78G>A NP_813977.1:p.Lys26=
XM_005253109.2:c.204G>A XP_005253166.1:p.Lys68=
XM_011520344.1:c.114G>A XP_011518646.1:p.Lys38=
XM_005253109.3:c.204G>A XP_005253166.1:p.Lys68=
XM_011520344.2:c.114G>A XP_011518646.1:p.Lys38=
NM_177972.3:c.78G>A MANE Select NP_813977.1:p.Lys26=
NM_003320.5:c.243G>A NP_003311.2:p.Lys81=