Canonical Allele Identifier: CA379562995

Gene: TUB

Linked Data

• ClinVar Variation Id: 1385716
• ClinVar RCV Id: RCV001871432
• dbSNP Id: rs1564917173
• gnomAD v2: 11-8111727-G-A
• gnomAD v4: 11-8090180-G-A
• MyVariant Identifiers: chr11:g.8111727G>A (hg19) ; chr11:g.8090180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090180G>A , CM000673.2:g.8090180G>A	GRCh38
NC_000011.9:g.8111727G>A , CM000673.1:g.8111727G>A	GRCh37
NC_000011.8:g.8068303G>A	NCBI36
NG_029912.1:g.56548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.202G>A MANE Select	ENSP00000299506.3:p.Ala68Thr
ENST00000299506.2:c.202G>A	ENSP00000299506.2:p.Ala68Thr
ENST00000305253.8:c.367G>A	ENSP00000305426.4:p.Ala123Thr
ENST00000534099.5:c.220G>A	ENSP00000434400.1:p.Ala74Thr
NM_003320.4:c.367G>A	NP_003311.2:p.Ala123Thr
NM_177972.2:c.202G>A	NP_813977.1:p.Ala68Thr
XM_005253109.2:c.328G>A	XP_005253166.1:p.Ala110Thr
XM_011520344.1:c.238G>A	XP_011518646.1:p.Ala80Thr
XM_005253109.3:c.328G>A	XP_005253166.1:p.Ala110Thr
XM_011520344.2:c.238G>A	XP_011518646.1:p.Ala80Thr
NM_177972.3:c.202G>A MANE Select	NP_813977.1:p.Ala68Thr
NM_003320.5:c.367G>A	NP_003311.2:p.Ala123Thr