Canonical Allele Identifier: CA934888104
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs927634519
gnomAD v3: 11-8089797-T-C
gnomAD v4: 11-8089797-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089797T>C , CM000673.2:g.8089797T>C GRCh38
NC_000011.9:g.8111344T>C , CM000673.1:g.8111344T>C GRCh37
NC_000011.8:g.8067920T>C NCBI36
NG_029912.1:g.56165T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.90+136T>C MANE Select ENSP00000299506.3:n.90+136T>C
ENST00000299506.2:c.90+136T>C ENSP00000299506.2:n.90+136T>C
ENST00000305253.8:c.255+136T>C ENSP00000305426.4:n.255+136T>C
ENST00000534099.5:c.108+136T>C ENSP00000434400.1:n.108+136T>C
NM_003320.4:c.255+136T>C NP_003311.2:n.255+136T>C
NM_177972.2:c.90+136T>C NP_813977.1:n.90+136T>C
XM_005253109.2:c.216+136T>C XP_005253166.1:n.216+136T>C
XM_011520344.1:c.126+136T>C XP_011518646.1:n.126+136T>C
XM_005253109.3:c.216+136T>C XP_005253166.1:n.216+136T>C
XM_011520344.2:c.126+136T>C XP_011518646.1:n.126+136T>C
NM_177972.3:c.90+136T>C MANE Select NP_813977.1:n.90+136T>C
NM_003320.5:c.255+136T>C NP_003311.2:n.255+136T>C