Canonical Allele Identifier: CA379562292

Gene: TUB

Linked Data

• gnomAD v4: 11-8089624-A-C
• MyVariant Identifiers: chr11:g.8111171A>C (hg19) ; chr11:g.8089624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089624A>C , CM000673.2:g.8089624A>C	GRCh38
NC_000011.9:g.8111171A>C , CM000673.1:g.8111171A>C	GRCh37
NC_000011.8:g.8067747A>C	NCBI36
NG_029912.1:g.55992A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.53A>C MANE Select	ENSP00000299506.3:p.Glu18Ala
ENST00000299506.2:c.53A>C	ENSP00000299506.2:p.Glu18Ala
ENST00000305253.8:c.218A>C	ENSP00000305426.4:p.Glu73Ala
ENST00000534099.5:c.71A>C	ENSP00000434400.1:p.Glu24Ala
NM_003320.4:c.218A>C	NP_003311.2:p.Glu73Ala
NM_177972.2:c.53A>C	NP_813977.1:p.Glu18Ala
XM_005253109.2:c.179A>C	XP_005253166.1:p.Glu60Ala
XM_011520344.1:c.89A>C	XP_011518646.1:p.Glu30Ala
XM_005253109.3:c.179A>C	XP_005253166.1:p.Glu60Ala
XM_011520344.2:c.89A>C	XP_011518646.1:p.Glu30Ala
NM_177972.3:c.53A>C MANE Select	NP_813977.1:p.Glu18Ala
NM_003320.5:c.218A>C	NP_003311.2:p.Glu73Ala