Canonical Allele Identifier: CA597322313
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1205003064
gnomAD v2: 11-8110913-G-A
gnomAD v3: 11-8089366-G-A
gnomAD v4: 11-8089366-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089366G>A , CM000673.2:g.8089366G>A GRCh38
NC_000011.9:g.8110913G>A , CM000673.1:g.8110913G>A GRCh37
NC_000011.8:g.8067489G>A NCBI36
NG_029912.1:g.55734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.39-244G>A MANE Select ENSP00000299506.3:n.39-244G>A
ENST00000299506.2:c.39-244G>A ENSP00000299506.2:n.39-244G>A
ENST00000305253.8:c.204-244G>A ENSP00000305426.4:n.204-244G>A
ENST00000534099.5:c.57-244G>A ENSP00000434400.1:n.57-244G>A
NM_003320.4:c.204-244G>A NP_003311.2:n.204-244G>A
NM_177972.2:c.39-244G>A NP_813977.1:n.39-244G>A
XM_005253109.2:c.165-244G>A XP_005253166.1:n.165-244G>A
XM_011520344.1:c.75-244G>A XP_011518646.1:n.75-244G>A
XM_005253109.3:c.165-244G>A XP_005253166.1:n.165-244G>A
XM_011520344.2:c.75-244G>A XP_011518646.1:n.75-244G>A
NM_177972.3:c.39-244G>A MANE Select NP_813977.1:n.39-244G>A
NM_003320.5:c.204-244G>A NP_003311.2:n.204-244G>A