Canonical Allele Identifier: CA5871004
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs770943566
gnomAD v2: 11-8111774-C-G
gnomAD v4: 11-8090227-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090227C>G , CM000673.2:g.8090227C>G GRCh38
NC_000011.9:g.8111774C>G , CM000673.1:g.8111774C>G GRCh37
NC_000011.8:g.8068350C>G NCBI36
NG_029912.1:g.56595C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.249C>G MANE Select ENSP00000299506.3:p.Tyr83Ter
ENST00000299506.2:c.249C>G ENSP00000299506.2:p.Tyr83Ter
ENST00000305253.8:c.414C>G ENSP00000305426.4:p.Tyr138Ter
ENST00000534099.5:c.267C>G ENSP00000434400.1:p.Tyr89Ter
NM_003320.4:c.414C>G NP_003311.2:p.Tyr138Ter
NM_177972.2:c.249C>G NP_813977.1:p.Tyr83Ter
XM_005253109.2:c.375C>G XP_005253166.1:p.Tyr125Ter
XM_011520344.1:c.285C>G XP_011518646.1:p.Tyr95Ter
XM_005253109.3:c.375C>G XP_005253166.1:p.Tyr125Ter
XM_011520344.2:c.285C>G XP_011518646.1:p.Tyr95Ter
NM_177972.3:c.249C>G MANE Select NP_813977.1:p.Tyr83Ter
NM_003320.5:c.414C>G NP_003311.2:p.Tyr138Ter