Canonical Allele Identifier: CA286619455

Gene: TUBB3

Linked Data

• dbSNP Id: rs563540579
• gnomAD v2: 16-90002239-A-G
• gnomAD v3: 16-89935831-A-G
• gnomAD v4: 16-89935831-A-G
• MyVariant Identifiers: chr16:g.90002239A>G (hg19) ; chr16:g.89935831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935831A>G , CM000678.2:g.89935831A>G	GRCh38
NC_000016.9:g.90002239A>G , CM000678.1:g.90002239A>G	GRCh37
NC_000016.8:g.88529740A>G	NCBI36
NG_027810.1:g.18823A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.*27A>G MANE Select	ENSP00000320295.7:n.*27A>G
ENST00000680788.1:n.4801A>G
ENST00000315491.11:c.*27A>G	ENSP00000320295.7:n.*27A>G
ENST00000554444.5:c.*27A>G	ENSP00000451617.1:n.*27A>G
ENST00000555576.5:c.277+2253A>G	ENSP00000452554.1:n.277+2253A>G
ENST00000555609.5:c.*1465A>G	ENSP00000451276.1:n.*1465A>G
ENST00000556922.1:c.*27A>G	ENSP00000451560.1:n.*27A>G
NM_001197181.1:c.*27A>G	NP_001184110.1:n.*27A>G
NM_006086.3:c.*27A>G	NP_006077.2:n.*27A>G
NM_006086.4:c.*27A>G MANE Select	NP_006077.2:n.*27A>G
NM_001197181.2:c.*27A>G	NP_001184110.1:n.*27A>G