Canonical Allele Identifier: CA16608343
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 384329
ClinVar RCV Id: RCV000422965 RCV000824822 RCV002275022
dbSNP Id: rs1057521924
COSMIC: COSM5929697
MyVariant Identifiers: chr16:g.90001721G>A (hg19) chr16:g.89935313G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935313G>A , CM000678.2:g.89935313G>A GRCh38
NC_000016.9:g.90001721G>A , CM000678.1:g.90001721G>A GRCh37
NC_000016.8:g.88529222G>A NCBI36
NG_027810.1:g.18305G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000315491.12:c.862G>A MANE Select ENSP00000320295.7:p.Glu288Lys
ENST00000680788.1:n.4283G>A
ENST00000315491.11:c.862G>A ENSP00000320295.7:p.Glu288Lys
ENST00000554444.5:c.646G>A ENSP00000451617.1:p.Glu216Lys
ENST00000555576.5:c.277+1735G>A ENSP00000452554.1:n.277+1735G>A
ENST00000555609.5:c.*947G>A ENSP00000451276.1:n.*947G>A
ENST00000556922.1:c.1903G>A ENSP00000451560.1:p.Glu635Lys
NM_001197181.1:c.646G>A NP_001184110.1:p.Glu216Lys
NM_006086.3:c.862G>A NP_006077.2:p.Glu288Lys
NM_006086.4:c.862G>A MANE Select NP_006077.2:p.Glu288Lys
NM_001197181.2:c.646G>A NP_001184110.1:p.Glu216Lys
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