Canonical Allele Identifier: CA379562300
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8089625-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089625G>T , CM000673.2:g.8089625G>T GRCh38
NC_000011.9:g.8111172G>T , CM000673.1:g.8111172G>T GRCh37
NC_000011.8:g.8067748G>T NCBI36
NG_029912.1:g.55993G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.54G>T MANE Select ENSP00000299506.3:p.Glu18Asp
ENST00000299506.2:c.54G>T ENSP00000299506.2:p.Glu18Asp
ENST00000305253.8:c.219G>T ENSP00000305426.4:p.Glu73Asp
ENST00000534099.5:c.72G>T ENSP00000434400.1:p.Glu24Asp
NM_003320.4:c.219G>T NP_003311.2:p.Glu73Asp
NM_177972.2:c.54G>T NP_813977.1:p.Glu18Asp
XM_005253109.2:c.180G>T XP_005253166.1:p.Glu60Asp
XM_011520344.1:c.90G>T XP_011518646.1:p.Glu30Asp
XM_005253109.3:c.180G>T XP_005253166.1:p.Glu60Asp
XM_011520344.2:c.90G>T XP_011518646.1:p.Glu30Asp
NM_177972.3:c.54G>T MANE Select NP_813977.1:p.Glu18Asp
NM_003320.5:c.219G>T NP_003311.2:p.Glu73Asp