Canonical Allele Identifier: CA379562655
Gene: TUB HGNC NCBI

Linked Data

dbSNP Id: rs1457430266
gnomAD v2: 11-8111645-G-T
gnomAD v4: 11-8090098-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8090098G>T , CM000673.2:g.8090098G>T GRCh38
NC_000011.9:g.8111645G>T , CM000673.1:g.8111645G>T GRCh37
NC_000011.8:g.8068221G>T NCBI36
NG_029912.1:g.56466G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.120G>T MANE Select ENSP00000299506.3:p.Lys40Asn
ENST00000299506.2:c.120G>T ENSP00000299506.2:p.Lys40Asn
ENST00000305253.8:c.285G>T ENSP00000305426.4:p.Lys95Asn
ENST00000534099.5:c.138G>T ENSP00000434400.1:p.Lys46Asn
NM_003320.4:c.285G>T NP_003311.2:p.Lys95Asn
NM_177972.2:c.120G>T NP_813977.1:p.Lys40Asn
XM_005253109.2:c.246G>T XP_005253166.1:p.Lys82Asn
XM_011520344.1:c.156G>T XP_011518646.1:p.Lys52Asn
XM_005253109.3:c.246G>T XP_005253166.1:p.Lys82Asn
XM_011520344.2:c.156G>T XP_011518646.1:p.Lys52Asn
NM_177972.3:c.120G>T MANE Select NP_813977.1:p.Lys40Asn
NM_003320.5:c.285G>T NP_003311.2:p.Lys95Asn