Canonical Allele Identifier: CA340620
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6964
ClinVar RCV Id: RCV000007379 RCV000386199
dbSNP Id: rs267607163
gnomAD v2: 16-90001763-G-A
gnomAD v4: 16-89935355-G-A
COSMIC: COSM975020
MyVariant Identifiers: chr16:g.90001763G>A (hg19) chr16:g.89935355G>A (hg38)
PubMed: PMID:20074521 PMID:20301522 PMID:20829227
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935355G>A , CM000678.2:g.89935355G>A GRCh38
NC_000016.9:g.90001763G>A , CM000678.1:g.90001763G>A GRCh37
NC_000016.8:g.88529264G>A NCBI36
NG_027810.1:g.18347G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.904G>A MANE Select ENSP00000320295.7:p.Ala302Thr
ENST00000680788.1:n.4325G>A
ENST00000315491.11:c.904G>A ENSP00000320295.7:p.Ala302Thr
ENST00000554444.5:c.688G>A ENSP00000451617.1:p.Ala230Thr
ENST00000555576.5:c.277+1777G>A ENSP00000452554.1:n.277+1777G>A
ENST00000555609.5:c.*989G>A ENSP00000451276.1:n.*989G>A
ENST00000556922.1:c.1945G>A ENSP00000451560.1:p.Ala649Thr
NM_001197181.1:c.688G>A NP_001184110.1:p.Ala230Thr
NM_006086.3:c.904G>A NP_006077.2:p.Ala302Thr
NM_006086.4:c.904G>A MANE Select NP_006077.2:p.Ala302Thr
NM_001197181.2:c.688G>A NP_001184110.1:p.Ala230Thr
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