Canonical Allele Identifier: CA213335
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 6967
ClinVar RCV Id: RCV000007382 RCV000194090 RCV001539529 RCV001267650 RCV004547462
dbSNP Id: rs267607165
MyVariant Identifiers: chr16:g.90002087G>A (hg19) chr16:g.89935679G>A (hg38)
PubMed: PMID:20074521 PMID:20301522 PMID:28299356
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935679G>A , CM000678.2:g.89935679G>A GRCh38
NC_000016.9:g.90002087G>A , CM000678.1:g.90002087G>A GRCh37
NC_000016.8:g.88529588G>A NCBI36
NG_027810.1:g.18671G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.1228G>A MANE Select ENSP00000320295.7:p.Glu410Lys
ENST00000680788.1:n.4649G>A
ENST00000315491.11:c.1228G>A ENSP00000320295.7:p.Glu410Lys
ENST00000554444.5:c.1012G>A ENSP00000451617.1:p.Glu338Lys
ENST00000555576.5:c.277+2101G>A ENSP00000452554.1:n.277+2101G>A
ENST00000555609.5:c.*1313G>A ENSP00000451276.1:n.*1313G>A
ENST00000556922.1:c.2269G>A ENSP00000451560.1:p.Glu757Lys
NM_001197181.1:c.1012G>A NP_001184110.1:p.Glu338Lys
NM_006086.3:c.1228G>A NP_006077.2:p.Glu410Lys
NM_006086.4:c.1228G>A MANE Select NP_006077.2:p.Glu410Lys
NM_001197181.2:c.1012G>A NP_001184110.1:p.Glu338Lys
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