Canonical Allele Identifier: CA2612330588
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8090235-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090235T>G , CM000673.2:g.8090235T>G GRCh38
NC_000011.9:g.8111782T>G , CM000673.1:g.8111782T>G GRCh37
NC_000011.8:g.8068358T>G NCBI36
NG_029912.1:g.56603T>G

Transcript Alleles

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