Canonical Allele Identifier: CA16043005
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372654
dbSNP Id: rs1057517908

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935214G>A , CM000678.2:g.89935214G>A GRCh38
NC_000016.9:g.90001622G>A , CM000678.1:g.90001622G>A GRCh37
NC_000016.8:g.88529123G>A NCBI36
NG_027810.1:g.18206G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000315491.12:c.763G>A MANE Select ENSP00000320295.7:p.Val255Ile
ENST00000680788.1:n.4184G>A
ENST00000315491.11:c.763G>A ENSP00000320295.7:p.Val255Ile
ENST00000554444.5:c.547G>A ENSP00000451617.1:p.Val183Ile
ENST00000555576.5:c.277+1636G>A ENSP00000452554.1:n.277+1636G>A
ENST00000555609.5:c.*848G>A ENSP00000451276.1:n.*848G>A
ENST00000555810.5:c.547G>A ENSP00000450538.1:p.Val183Ile
ENST00000556922.1:c.1804G>A ENSP00000451560.1:p.Val602Ile
NM_001197181.1:c.547G>A NP_001184110.1:p.Val183Ile
NM_006086.3:c.763G>A NP_006077.2:p.Val255Ile
NM_006086.4:c.763G>A MANE Select NP_006077.2:p.Val255Ile
NM_001197181.2:c.547G>A NP_001184110.1:p.Val183Ile