Canonical Allele Identifier: CA379561017
Gene: TUB HGNC NCBI

Linked Data

gnomAD v4: 11-8081547-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8081547A>C , CM000673.2:g.8081547A>C GRCh38
NC_000011.9:g.8103094A>C , CM000673.1:g.8103094A>C GRCh37
NC_000011.8:g.8059670A>C NCBI36
NG_029912.1:g.47915A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.37A>C MANE Select ENSP00000299506.3:p.Ser13Arg
ENST00000299506.2:c.37A>C ENSP00000299506.2:p.Ser13Arg
ENST00000305253.8:c.204-8063A>C ENSP00000305426.4:n.204-8063A>C
ENST00000534099.5:c.57-8063A>C ENSP00000434400.1:n.57-8063A>C
NM_003320.4:c.204-8063A>C NP_003311.2:n.204-8063A>C
NM_177972.2:c.37A>C NP_813977.1:p.Ser13Arg
XM_005253109.2:c.165-8063A>C XP_005253166.1:n.165-8063A>C
XM_005253109.3:c.165-8063A>C XP_005253166.1:n.165-8063A>C
NM_177972.3:c.37A>C MANE Select NP_813977.1:p.Ser13Arg
NM_003320.5:c.204-8063A>C NP_003311.2:n.204-8063A>C