Canonical Allele Identifier: CA16042959
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 373761
ClinVar RCV Id: RCV000413256
dbSNP Id: rs1057518593

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935065A>C , CM000678.2:g.89935065A>C GRCh38
NC_000016.9:g.90001473A>C , CM000678.1:g.90001473A>C GRCh37
NC_000016.8:g.88528974A>C NCBI36
NG_027810.1:g.18057A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315491.12:c.614A>C MANE Select ENSP00000320295.7:p.Glu205Ala
ENST00000680788.1:n.4035A>C
ENST00000315491.11:c.614A>C ENSP00000320295.7:p.Glu205Ala
ENST00000554444.5:c.398A>C ENSP00000451617.1:p.Glu133Ala
ENST00000555576.5:c.277+1487A>C ENSP00000452554.1:n.277+1487A>C
ENST00000555609.5:c.*699A>C ENSP00000451276.1:n.*699A>C
ENST00000555810.5:c.398A>C ENSP00000450538.1:p.Glu133Ala
ENST00000556536.5:c.*413A>C ENSP00000451378.1:n.*413A>C
ENST00000556922.1:c.1655A>C ENSP00000451560.1:p.Glu552Ala
NM_001197181.1:c.398A>C NP_001184110.1:p.Glu133Ala
NM_006086.3:c.614A>C NP_006077.2:p.Glu205Ala
NM_006086.4:c.614A>C MANE Select NP_006077.2:p.Glu205Ala
NM_001197181.2:c.398A>C NP_001184110.1:p.Glu133Ala