Canonical Allele Identifier: CA397476100

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 2690972
• ClinVar RCV Id: RCV003991633
• dbSNP Id: rs2030421919
• gnomAD v3: 16-89935404-G-A
• gnomAD v4: 16-89935404-G-A
• MyVariant Identifiers: chr16:g.90001812G>A (hg19) ; chr16:g.89935404G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935404G>A , CM000678.2:g.89935404G>A	GRCh38
NC_000016.9:g.90001812G>A , CM000678.1:g.90001812G>A	GRCh37
NC_000016.8:g.88529313G>A	NCBI36
NG_027810.1:g.18396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.953G>A MANE Select	ENSP00000320295.7:p.Arg318Gln
ENST00000680788.1:n.4374G>A
ENST00000315491.11:c.953G>A	ENSP00000320295.7:p.Arg318Gln
ENST00000554444.5:c.737G>A	ENSP00000451617.1:p.Arg246Gln
ENST00000555576.5:c.277+1826G>A	ENSP00000452554.1:n.277+1826G>A
ENST00000555609.5:c.*1038G>A	ENSP00000451276.1:n.*1038G>A
ENST00000556922.1:c.1994G>A	ENSP00000451560.1:p.Arg665Gln
NM_001197181.1:c.737G>A	NP_001184110.1:p.Arg246Gln
NM_006086.3:c.953G>A	NP_006077.2:p.Arg318Gln
NM_006086.4:c.953G>A MANE Select	NP_006077.2:p.Arg318Gln
NM_001197181.2:c.737G>A	NP_001184110.1:p.Arg246Gln