Canonical Allele Identifier: CA217415256
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs913761548
gnomAD v2: 11-8111289-C-G
gnomAD v4: 11-8089742-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089742C>G , CM000673.2:g.8089742C>G GRCh38
NC_000011.9:g.8111289C>G , CM000673.1:g.8111289C>G GRCh37
NC_000011.8:g.8067865C>G NCBI36
NG_029912.1:g.56110C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299506.3:c.90+81C>G MANE Select ENSP00000299506.3:n.90+81C>G
ENST00000299506.2:c.90+81C>G ENSP00000299506.2:n.90+81C>G
ENST00000305253.8:c.255+81C>G ENSP00000305426.4:n.255+81C>G
ENST00000534099.5:c.108+81C>G ENSP00000434400.1:n.108+81C>G
NM_003320.4:c.255+81C>G NP_003311.2:n.255+81C>G
NM_177972.2:c.90+81C>G NP_813977.1:n.90+81C>G
XM_005253109.2:c.216+81C>G XP_005253166.1:n.216+81C>G
XM_011520344.1:c.126+81C>G XP_011518646.1:n.126+81C>G
XM_005253109.3:c.216+81C>G XP_005253166.1:n.216+81C>G
XM_011520344.2:c.126+81C>G XP_011518646.1:n.126+81C>G
NM_177972.3:c.90+81C>G MANE Select NP_813977.1:n.90+81C>G
NM_003320.5:c.255+81C>G NP_003311.2:n.255+81C>G