Canonical Allele Identifier: CA379562745
Gene: TUB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090120G>C , CM000673.2:g.8090120G>C GRCh38
NC_000011.9:g.8111667G>C , CM000673.1:g.8111667G>C GRCh37
NC_000011.8:g.8068243G>C NCBI36
NG_029912.1:g.56488G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.142G>C MANE Select ENSP00000299506.3:p.Val48Leu
ENST00000299506.2:c.142G>C ENSP00000299506.2:p.Val48Leu
ENST00000305253.8:c.307G>C ENSP00000305426.4:p.Val103Leu
ENST00000534099.5:c.160G>C ENSP00000434400.1:p.Val54Leu
NM_003320.4:c.307G>C NP_003311.2:p.Val103Leu
NM_177972.2:c.142G>C NP_813977.1:p.Val48Leu
XM_005253109.2:c.268G>C XP_005253166.1:p.Val90Leu
XM_011520344.1:c.178G>C XP_011518646.1:p.Val60Leu
XM_005253109.3:c.268G>C XP_005253166.1:p.Val90Leu
XM_011520344.2:c.178G>C XP_011518646.1:p.Val60Leu
NM_177972.3:c.142G>C MANE Select NP_813977.1:p.Val48Leu
NM_003320.5:c.307G>C NP_003311.2:p.Val103Leu