Canonical Allele Identifier: CA379562717
Gene: TUB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090114C>G , CM000673.2:g.8090114C>G GRCh38
NC_000011.9:g.8111661C>G , CM000673.1:g.8111661C>G GRCh37
NC_000011.8:g.8068237C>G NCBI36
NG_029912.1:g.56482C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.136C>G MANE Select ENSP00000299506.3:p.Leu46Val
ENST00000299506.2:c.136C>G ENSP00000299506.2:p.Leu46Val
ENST00000305253.8:c.301C>G ENSP00000305426.4:p.Leu101Val
ENST00000534099.5:c.154C>G ENSP00000434400.1:p.Leu52Val
NM_003320.4:c.301C>G NP_003311.2:p.Leu101Val
NM_177972.2:c.136C>G NP_813977.1:p.Leu46Val
XM_005253109.2:c.262C>G XP_005253166.1:p.Leu88Val
XM_011520344.1:c.172C>G XP_011518646.1:p.Leu58Val
XM_005253109.3:c.262C>G XP_005253166.1:p.Leu88Val
XM_011520344.2:c.172C>G XP_011518646.1:p.Leu58Val
NM_177972.3:c.136C>G MANE Select NP_813977.1:p.Leu46Val
NM_003320.5:c.301C>G NP_003311.2:p.Leu101Val