Canonical Allele Identifier: CA16043693
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374309
ClinVar RCV Id: RCV002524671
dbSNP Id: rs1057518686
MyVariant Identifiers: chr16:g.90001841G>A (hg19) chr16:g.89935433G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935433G>A , CM000678.2:g.89935433G>A GRCh38
NC_000016.9:g.90001841G>A , CM000678.1:g.90001841G>A GRCh37
NC_000016.8:g.88529342G>A NCBI36
NG_027810.1:g.18425G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000315491.12:c.982G>A MANE Select ENSP00000320295.7:p.Glu328Lys
ENST00000680788.1:n.4403G>A
ENST00000315491.11:c.982G>A ENSP00000320295.7:p.Glu328Lys
ENST00000554444.5:c.766G>A ENSP00000451617.1:p.Glu256Lys
ENST00000555576.5:c.277+1855G>A ENSP00000452554.1:n.277+1855G>A
ENST00000555609.5:c.*1067G>A ENSP00000451276.1:n.*1067G>A
ENST00000556922.1:c.2023G>A ENSP00000451560.1:p.Glu675Lys
NM_001197181.1:c.766G>A NP_001184110.1:p.Glu256Lys
NM_006086.3:c.982G>A NP_006077.2:p.Glu328Lys
NM_006086.4:c.982G>A MANE Select NP_006077.2:p.Glu328Lys
NM_001197181.2:c.766G>A NP_001184110.1:p.Glu256Lys
Search 100 bp 5'
Search 100 bp 3'