Canonical Allele Identifier: CA597441581
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1192592373
gnomAD v2: 11-8111803-T-C
gnomAD v3: 11-8090256-T-C
gnomAD v4: 11-8090256-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090256T>C , CM000673.2:g.8090256T>C GRCh38
NC_000011.9:g.8111803T>C , CM000673.1:g.8111803T>C GRCh37
NC_000011.8:g.8068379T>C NCBI36
NG_029912.1:g.56624T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.253+25T>C MANE Select ENSP00000299506.3:n.253+25T>C
ENST00000299506.2:c.253+25T>C ENSP00000299506.2:n.253+25T>C
ENST00000305253.8:c.418+25T>C ENSP00000305426.4:n.418+25T>C
ENST00000534099.5:c.271+25T>C ENSP00000434400.1:n.271+25T>C
NM_003320.4:c.418+25T>C NP_003311.2:n.418+25T>C
NM_177972.2:c.253+25T>C NP_813977.1:n.253+25T>C
XM_005253109.2:c.379+25T>C XP_005253166.1:n.379+25T>C
XM_011520344.1:c.289+25T>C XP_011518646.1:n.289+25T>C
XM_005253109.3:c.379+25T>C XP_005253166.1:n.379+25T>C
XM_011520344.2:c.289+25T>C XP_011518646.1:n.289+25T>C
NM_177972.3:c.253+25T>C MANE Select NP_813977.1:n.253+25T>C
NM_003320.5:c.418+25T>C NP_003311.2:n.418+25T>C