Canonical Allele Identifier: CA397476947

Gene: TUBB3

Linked Data

• dbSNP Id: rs1482084615
• gnomAD v2: 16-90002060-G-A
• gnomAD v4: 16-89935652-G-A
• COSMIC: COSM6304281
• MyVariant Identifiers: chr16:g.90002060G>A (hg19) ; chr16:g.89935652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935652G>A , CM000678.2:g.89935652G>A	GRCh38
NC_000016.9:g.90002060G>A , CM000678.1:g.90002060G>A	GRCh37
NC_000016.8:g.88529561G>A	NCBI36
NG_027810.1:g.18644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1201G>A MANE Select	ENSP00000320295.7:p.Glu401Lys
ENST00000680788.1:n.4622G>A
ENST00000315491.11:c.1201G>A	ENSP00000320295.7:p.Glu401Lys
ENST00000554444.5:c.985G>A	ENSP00000451617.1:p.Glu329Lys
ENST00000555576.5:c.277+2074G>A	ENSP00000452554.1:n.277+2074G>A
ENST00000555609.5:c.*1286G>A	ENSP00000451276.1:n.*1286G>A
ENST00000556922.1:c.2242G>A	ENSP00000451560.1:p.Glu748Lys
NM_001197181.1:c.985G>A	NP_001184110.1:p.Glu329Lys
NM_006086.3:c.1201G>A	NP_006077.2:p.Glu401Lys
NM_006086.4:c.1201G>A MANE Select	NP_006077.2:p.Glu401Lys
NM_001197181.2:c.985G>A	NP_001184110.1:p.Glu329Lys