Canonical Allele Identifier: CA379562601
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1437477335
gnomAD v2: 11-8111633-G-C
gnomAD v4: 11-8090086-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090086G>C , CM000673.2:g.8090086G>C GRCh38
NC_000011.9:g.8111633G>C , CM000673.1:g.8111633G>C GRCh37
NC_000011.8:g.8068209G>C NCBI36
NG_029912.1:g.56454G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.108G>C MANE Select ENSP00000299506.3:p.Gln36His
ENST00000299506.2:c.108G>C ENSP00000299506.2:p.Gln36His
ENST00000305253.8:c.273G>C ENSP00000305426.4:p.Gln91His
ENST00000534099.5:c.126G>C ENSP00000434400.1:p.Gln42His
NM_003320.4:c.273G>C NP_003311.2:p.Gln91His
NM_177972.2:c.108G>C NP_813977.1:p.Gln36His
XM_005253109.2:c.234G>C XP_005253166.1:p.Gln78His
XM_011520344.1:c.144G>C XP_011518646.1:p.Gln48His
XM_005253109.3:c.234G>C XP_005253166.1:p.Gln78His
XM_011520344.2:c.144G>C XP_011518646.1:p.Gln48His
NM_177972.3:c.108G>C MANE Select NP_813977.1:p.Gln36His
NM_003320.5:c.273G>C NP_003311.2:p.Gln91His