Canonical Allele Identifier: CA8255943
Gene: TUBB3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89932622G>A , CM000678.2:g.89932622G>A GRCh38
NC_000016.9:g.89999030G>A , CM000678.1:g.89999030G>A GRCh37
NC_000016.8:g.88526531G>A NCBI36
NG_027810.1:g.15614G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.109G>A MANE Select ENSP00000320295.7:p.Val37Met
ENST00000680647.1:n.2358G>A
ENST00000680788.1:n.3530G>A
ENST00000315491.11:c.109G>A ENSP00000320295.7:p.Val37Met
ENST00000553656.5:c.*92G>A ENSP00000452001.1:n.*92G>A
ENST00000553967.1:c.109G>A ENSP00000450765.1:p.Val37Met
ENST00000554336.5:c.109G>A ENSP00000450822.1:p.Val37Met
ENST00000554444.5:c.-108G>A ENSP00000451617.1:n.-108G>A
ENST00000554927.1:n.166G>A
ENST00000555576.5:c.109G>A ENSP00000452554.1:p.Val37Met
ENST00000555609.5:c.109G>A ENSP00000451276.1:p.Val37Met
ENST00000555810.5:c.-108G>A ENSP00000450538.1:n.-108G>A
ENST00000556536.5:c.109G>A ENSP00000451378.1:p.Val37Met
ENST00000556565.5:c.-108G>A ENSP00000452166.1:n.-108G>A
ENST00000556922.1:c.1150G>A ENSP00000451560.1:p.Val384Met
ENST00000557262.5:c.*92G>A ENSP00000451985.1:n.*92G>A
ENST00000557490.5:c.109G>A ENSP00000451465.1:p.Val37Met
ENST00000625617.2:c.109G>A ENSP00000485859.1:p.Val37Met
NM_001197181.1:c.-108G>A NP_001184110.1:n.-108G>A
NM_006086.3:c.109G>A NP_006077.2:p.Val37Met
NM_006086.4:c.109G>A MANE Select NP_006077.2:p.Val37Met
NM_001197181.2:c.-108G>A NP_001184110.1:n.-108G>A