Canonical Allele Identifier: CA8256269

Gene: TUBB3

Linked Data

• dbSNP Id: rs768243376
• ExAC: 16:90002260 C / A
• gnomAD v2: 16-90002260-C-A
• gnomAD v3: 16-89935852-C-A
• gnomAD v4: 16-89935852-C-A
• MyVariant Identifiers: chr16:g.90002260C>A (hg19) ; chr16:g.89935852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935852C>A , CM000678.2:g.89935852C>A	GRCh38
NC_000016.9:g.90002260C>A , CM000678.1:g.90002260C>A	GRCh37
NC_000016.8:g.88529761C>A	NCBI36
NG_027810.1:g.18844C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.*48C>A MANE Select	ENSP00000320295.7:n.*48C>A
ENST00000680788.1:n.4822C>A
ENST00000315491.11:c.*48C>A	ENSP00000320295.7:n.*48C>A
ENST00000554444.5:c.*48C>A	ENSP00000451617.1:n.*48C>A
ENST00000555576.5:c.277+2274C>A	ENSP00000452554.1:n.277+2274C>A
ENST00000555609.5:c.*1486C>A	ENSP00000451276.1:n.*1486C>A
ENST00000556922.1:c.*48C>A	ENSP00000451560.1:n.*48C>A
NM_001197181.1:c.*48C>A	NP_001184110.1:n.*48C>A
NM_006086.3:c.*48C>A	NP_006077.2:n.*48C>A
NM_006086.4:c.*48C>A MANE Select	NP_006077.2:n.*48C>A
NM_001197181.2:c.*48C>A	NP_001184110.1:n.*48C>A