Canonical Allele Identifier: CA347962

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 219256
• ClinVar RCV Id: RCV000203607 ; RCV000519071 ; RCV004553109 ; RCV001270742
• dbSNP Id: rs864321716
• MyVariant Identifiers: chr16:g.90001644G>A (hg19) ; chr16:g.89935236G>A (hg38)
• PubMed: PMID:20301522

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935236G>A , CM000678.2:g.89935236G>A	GRCh38
NC_000016.9:g.90001644G>A , CM000678.1:g.90001644G>A	GRCh37
NC_000016.8:g.88529145G>A	NCBI36
NG_027810.1:g.18228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.785G>A MANE Select	ENSP00000320295.7:p.Arg262His
ENST00000680788.1:n.4206G>A
ENST00000315491.11:c.785G>A	ENSP00000320295.7:p.Arg262His
ENST00000554444.5:c.569G>A	ENSP00000451617.1:p.Arg190His
ENST00000555576.5:c.277+1658G>A	ENSP00000452554.1:n.277+1658G>A
ENST00000555609.5:c.*870G>A	ENSP00000451276.1:n.*870G>A
ENST00000556922.1:c.1826G>A	ENSP00000451560.1:p.Arg609His
NM_001197181.1:c.569G>A	NP_001184110.1:p.Arg190His
NM_006086.3:c.785G>A	NP_006077.2:p.Arg262His
NM_006086.4:c.785G>A MANE Select	NP_006077.2:p.Arg262His
NM_001197181.2:c.569G>A	NP_001184110.1:p.Arg190His