Canonical Allele Identifier: CA379562664
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1396926520
gnomAD v2: 11-8111647-A-G
gnomAD v4: 11-8090100-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090100A>G , CM000673.2:g.8090100A>G GRCh38
NC_000011.9:g.8111647A>G , CM000673.1:g.8111647A>G GRCh37
NC_000011.8:g.8068223A>G NCBI36
NG_029912.1:g.56468A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.122A>G MANE Select ENSP00000299506.3:p.Lys41Arg
ENST00000299506.2:c.122A>G ENSP00000299506.2:p.Lys41Arg
ENST00000305253.8:c.287A>G ENSP00000305426.4:p.Lys96Arg
ENST00000534099.5:c.140A>G ENSP00000434400.1:p.Lys47Arg
NM_003320.4:c.287A>G NP_003311.2:p.Lys96Arg
NM_177972.2:c.122A>G NP_813977.1:p.Lys41Arg
XM_005253109.2:c.248A>G XP_005253166.1:p.Lys83Arg
XM_011520344.1:c.158A>G XP_011518646.1:p.Lys53Arg
XM_005253109.3:c.248A>G XP_005253166.1:p.Lys83Arg
XM_011520344.2:c.158A>G XP_011518646.1:p.Lys53Arg
NM_177972.3:c.122A>G MANE Select NP_813977.1:p.Lys41Arg
NM_003320.5:c.287A>G NP_003311.2:p.Lys96Arg