Canonical Allele Identifier: CA8256246
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2963833
ClinVar RCV Id: RCV003825471
dbSNP Id: rs144036692
ExAC: 16:90002185 G / A
gnomAD v2: 16-90002185-G-A
gnomAD v3: 16-89935777-G-A
gnomAD v4: 16-89935777-G-A
MyVariant Identifiers: chr16:g.90002185G>A (hg19) chr16:g.89935777G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935777G>A , CM000678.2:g.89935777G>A GRCh38
NC_000016.9:g.90002185G>A , CM000678.1:g.90002185G>A GRCh37
NC_000016.8:g.88529686G>A NCBI36
NG_027810.1:g.18769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.1326G>A MANE Select ENSP00000320295.7:p.Glu442=
ENST00000680788.1:n.4747G>A
ENST00000315491.11:c.1326G>A ENSP00000320295.7:p.Glu442=
ENST00000554444.5:c.1110G>A ENSP00000451617.1:p.Glu370=
ENST00000555576.5:c.277+2199G>A ENSP00000452554.1:n.277+2199G>A
ENST00000555609.5:c.*1411G>A ENSP00000451276.1:n.*1411G>A
ENST00000556922.1:c.2367G>A ENSP00000451560.1:p.Glu789=
NM_001197181.1:c.1110G>A NP_001184110.1:p.Glu370=
NM_006086.3:c.1326G>A NP_006077.2:p.Glu442=
NM_006086.4:c.1326G>A MANE Select NP_006077.2:p.Glu442=
NM_001197181.2:c.1110G>A NP_001184110.1:p.Glu370=
Search 100 bp 5'
Search 100 bp 3'