Canonical Allele Identifier: CA379562378
Gene: TUB HGNC NCBI

Linked Data

ClinVar Variation Id: 2633493
ClinVar RCV Id: RCV003391587

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089642A>G , CM000673.2:g.8089642A>G GRCh38
NC_000011.9:g.8111189A>G , CM000673.1:g.8111189A>G GRCh37
NC_000011.8:g.8067765A>G NCBI36
NG_029912.1:g.56010A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.71A>G MANE Select ENSP00000299506.3:p.Gln24Arg
ENST00000299506.2:c.71A>G ENSP00000299506.2:p.Gln24Arg
ENST00000305253.8:c.236A>G ENSP00000305426.4:p.Gln79Arg
ENST00000534099.5:c.89A>G ENSP00000434400.1:p.Gln30Arg
NM_003320.4:c.236A>G NP_003311.2:p.Gln79Arg
NM_177972.2:c.71A>G NP_813977.1:p.Gln24Arg
XM_005253109.2:c.197A>G XP_005253166.1:p.Gln66Arg
XM_011520344.1:c.107A>G XP_011518646.1:p.Gln36Arg
XM_005253109.3:c.197A>G XP_005253166.1:p.Gln66Arg
XM_011520344.2:c.107A>G XP_011518646.1:p.Gln36Arg
NM_177972.3:c.71A>G MANE Select NP_813977.1:p.Gln24Arg
NM_003320.5:c.236A>G NP_003311.2:p.Gln79Arg