Canonical Allele Identifier: CA217415716
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs957424115
gnomAD v3: 11-8090228-C-G
gnomAD v4: 11-8090228-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090228C>G , CM000673.2:g.8090228C>G GRCh38
NC_000011.9:g.8111775C>G , CM000673.1:g.8111775C>G GRCh37
NC_000011.8:g.8068351C>G NCBI36
NG_029912.1:g.56596C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.250C>G MANE Select ENSP00000299506.3:p.Gln84Glu
ENST00000299506.2:c.250C>G ENSP00000299506.2:p.Gln84Glu
ENST00000305253.8:c.415C>G ENSP00000305426.4:p.Gln139Glu
ENST00000534099.5:c.268C>G ENSP00000434400.1:p.Gln90Glu
NM_003320.4:c.415C>G NP_003311.2:p.Gln139Glu
NM_177972.2:c.250C>G NP_813977.1:p.Gln84Glu
XM_005253109.2:c.376C>G XP_005253166.1:p.Gln126Glu
XM_011520344.1:c.286C>G XP_011518646.1:p.Gln96Glu
XM_005253109.3:c.376C>G XP_005253166.1:p.Gln126Glu
XM_011520344.2:c.286C>G XP_011518646.1:p.Gln96Glu
NM_177972.3:c.250C>G MANE Select NP_813977.1:p.Gln84Glu
NM_003320.5:c.415C>G NP_003311.2:p.Gln139Glu