This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA205814
Gene: TUBB3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89933491A>G , CM000678.2:g.89933491A>G GRCh38
NC_000016.9:g.89999899A>G , CM000678.1:g.89999899A>G GRCh37
NC_000016.8:g.88527400A>G NCBI36
NG_027810.1:g.16483A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.190A>G MANE Select ENSP00000320295.7:p.Ile64Val
ENST00000680647.1:n.2439A>G
ENST00000680788.1:n.3611A>G
ENST00000315491.11:c.190A>G ENSP00000320295.7:p.Ile64Val
ENST00000553656.5:c.*173A>G ENSP00000452001.1:n.*173A>G
ENST00000553967.1:c.190A>G ENSP00000450765.1:p.Ile64Val
ENST00000554336.5:c.190A>G ENSP00000450822.1:p.Ile64Val
ENST00000554444.5:c.-27A>G ENSP00000451617.1:n.-27A>G
ENST00000555576.5:c.190A>G ENSP00000452554.1:p.Ile64Val
ENST00000555609.5:c.*275A>G ENSP00000451276.1:n.*275A>G
ENST00000555810.5:c.-27A>G ENSP00000450538.1:n.-27A>G
ENST00000556536.5:c.190A>G ENSP00000451378.1:p.Ile64Val
ENST00000556565.5:c.-27A>G ENSP00000452166.1:n.-27A>G
ENST00000556922.1:c.1231A>G ENSP00000451560.1:p.Ile411Val
ENST00000557262.5:c.*173A>G ENSP00000451985.1:n.*173A>G
ENST00000557490.5:c.*155A>G ENSP00000451465.1:n.*155A>G
ENST00000625617.2:c.190A>G ENSP00000485859.1:p.Ile64Val
NM_001197181.1:c.-27A>G NP_001184110.1:n.-27A>G
NM_006086.3:c.190A>G NP_006077.2:p.Ile64Val
NM_006086.4:c.190A>G MANE Select NP_006077.2:p.Ile64Val
NM_001197181.2:c.-27A>G NP_001184110.1:n.-27A>G