Canonical Allele Identifier: CA379561346
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8019357-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8019357A>C , CM000673.2:g.8019357A>C GRCh38
NC_000011.9:g.8040904A>C , CM000673.1:g.8040904A>C GRCh37
NC_000011.8:g.7997480A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000534099.5:c.55A>C ENSP00000434400.1:p.Ser19Arg
XM_005253109.2:c.163A>C XP_005253166.1:p.Ser55Arg
XM_005253109.3:c.163A>C XP_005253166.1:p.Ser55Arg