Canonical Allele Identifier: CA473009005

Gene: TUB

Linked Data

• ClinVar Variation Id: 2012011
• ClinVar RCV Id: RCV002838838
• dbSNP Id: rs1943733263
• MyVariant Identifiers: chr11:g.8111169T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089622T>C , CM000673.2:g.8089622T>C	GRCh38
NC_000011.9:g.8111169T>C , CM000673.1:g.8111169T>C	GRCh37
NC_000011.8:g.8067745T>C	NCBI36
NG_029912.1:g.55990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.51T>C MANE Select	ENSP00000299506.3:p.Asp17=
ENST00000299506.2:c.51T>C	ENSP00000299506.2:p.Asp17=
ENST00000305253.8:c.216T>C	ENSP00000305426.4:p.Asp72=
ENST00000534099.5:c.69T>C	ENSP00000434400.1:p.Asp23=
NM_003320.4:c.216T>C	NP_003311.2:p.Asp72=
NM_177972.2:c.51T>C	NP_813977.1:p.Asp17=
XM_005253109.2:c.177T>C	XP_005253166.1:p.Asp59=
XM_011520344.1:c.87T>C	XP_011518646.1:p.Asp29=
XM_005253109.3:c.177T>C	XP_005253166.1:p.Asp59=
XM_011520344.2:c.87T>C	XP_011518646.1:p.Asp29=
NM_177972.3:c.51T>C MANE Select	NP_813977.1:p.Asp17=
NM_003320.5:c.216T>C	NP_003311.2:p.Asp72=