Canonical Allele Identifier: CA2612330593
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8090253-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090253A>G , CM000673.2:g.8090253A>G GRCh38
NC_000011.9:g.8111800A>G , CM000673.1:g.8111800A>G GRCh37
NC_000011.8:g.8068376A>G NCBI36
NG_029912.1:g.56621A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.253+22A>G MANE Select ENSP00000299506.3:n.253+22A>G
ENST00000299506.2:c.253+22A>G ENSP00000299506.2:n.253+22A>G
ENST00000305253.8:c.418+22A>G ENSP00000305426.4:n.418+22A>G
ENST00000534099.5:c.271+22A>G ENSP00000434400.1:n.271+22A>G
NM_003320.4:c.418+22A>G NP_003311.2:n.418+22A>G
NM_177972.2:c.253+22A>G NP_813977.1:n.253+22A>G
XM_005253109.2:c.379+22A>G XP_005253166.1:n.379+22A>G
XM_011520344.1:c.289+22A>G XP_011518646.1:n.289+22A>G
XM_005253109.3:c.379+22A>G XP_005253166.1:n.379+22A>G
XM_011520344.2:c.289+22A>G XP_011518646.1:n.289+22A>G
NM_177972.3:c.253+22A>G MANE Select NP_813977.1:n.253+22A>G
NM_003320.5:c.418+22A>G NP_003311.2:n.418+22A>G