Canonical Allele Identifier: CA597322501
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1157857811
gnomAD v2: 11-8111260-G-C
gnomAD v4: 11-8089713-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089713G>C , CM000673.2:g.8089713G>C GRCh38
NC_000011.9:g.8111260G>C , CM000673.1:g.8111260G>C GRCh37
NC_000011.8:g.8067836G>C NCBI36
NG_029912.1:g.56081G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.90+52G>C MANE Select ENSP00000299506.3:n.90+52G>C
ENST00000299506.2:c.90+52G>C ENSP00000299506.2:n.90+52G>C
ENST00000305253.8:c.255+52G>C ENSP00000305426.4:n.255+52G>C
ENST00000534099.5:c.108+52G>C ENSP00000434400.1:n.108+52G>C
NM_003320.4:c.255+52G>C NP_003311.2:n.255+52G>C
NM_177972.2:c.90+52G>C NP_813977.1:n.90+52G>C
XM_005253109.2:c.216+52G>C XP_005253166.1:n.216+52G>C
XM_011520344.1:c.126+52G>C XP_011518646.1:n.126+52G>C
XM_005253109.3:c.216+52G>C XP_005253166.1:n.216+52G>C
XM_011520344.2:c.126+52G>C XP_011518646.1:n.126+52G>C
NM_177972.3:c.90+52G>C MANE Select NP_813977.1:n.90+52G>C
NM_003320.5:c.255+52G>C NP_003311.2:n.255+52G>C