Canonical Allele Identifier: CA5870923

Gene: TUB

Linked Data

• ClinVar Variation Id: 1114277
• ClinVar RCV Id: RCV001441925 ; RCV003930932
• dbSNP Id: rs376106107
• ExAC: 11:8111147 C / T
• gnomAD v2: 11-8111147-C-T
• gnomAD v3: 11-8089600-C-T
• gnomAD v4: 11-8089600-C-T
• MyVariant Identifiers: chr11:g.8111147C>T (hg19) ; chr11:g.8089600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089600C>T , CM000673.2:g.8089600C>T	GRCh38
NC_000011.9:g.8111147C>T , CM000673.1:g.8111147C>T	GRCh37
NC_000011.8:g.8067723C>T	NCBI36
NG_029912.1:g.55968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.39-10C>T MANE Select	ENSP00000299506.3:n.39-10C>T
ENST00000299506.2:c.39-10C>T	ENSP00000299506.2:n.39-10C>T
ENST00000305253.8:c.204-10C>T	ENSP00000305426.4:n.204-10C>T
ENST00000534099.5:c.57-10C>T	ENSP00000434400.1:n.57-10C>T
NM_003320.4:c.204-10C>T	NP_003311.2:n.204-10C>T
NM_177972.2:c.39-10C>T	NP_813977.1:n.39-10C>T
XM_005253109.2:c.165-10C>T	XP_005253166.1:n.165-10C>T
XM_011520344.1:c.75-10C>T	XP_011518646.1:n.75-10C>T
XM_005253109.3:c.165-10C>T	XP_005253166.1:n.165-10C>T
XM_011520344.2:c.75-10C>T	XP_011518646.1:n.75-10C>T
NM_177972.3:c.39-10C>T MANE Select	NP_813977.1:n.39-10C>T
NM_003320.5:c.204-10C>T	NP_003311.2:n.204-10C>T