Canonical Allele Identifier: CA397476265

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 2808302
• ClinVar RCV Id: RCV003684790
• MyVariant Identifiers: chr16:g.90001844C>G (hg19) ; chr16:g.89935436C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935436C>G , CM000678.2:g.89935436C>G	GRCh38
NC_000016.9:g.90001844C>G , CM000678.1:g.90001844C>G	GRCh37
NC_000016.8:g.88529345C>G	NCBI36
NG_027810.1:g.18428C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.985C>G MANE Select	ENSP00000320295.7:p.Gln329Glu
ENST00000680788.1:n.4406C>G
ENST00000315491.11:c.985C>G	ENSP00000320295.7:p.Gln329Glu
ENST00000554444.5:c.769C>G	ENSP00000451617.1:p.Gln257Glu
ENST00000555576.5:c.277+1858C>G	ENSP00000452554.1:n.277+1858C>G
ENST00000555609.5:c.*1070C>G	ENSP00000451276.1:n.*1070C>G
ENST00000556922.1:c.2026C>G	ENSP00000451560.1:p.Gln676Glu
NM_001197181.1:c.769C>G	NP_001184110.1:p.Gln257Glu
NM_006086.3:c.985C>G	NP_006077.2:p.Gln329Glu
NM_006086.4:c.985C>G MANE Select	NP_006077.2:p.Gln329Glu
NM_001197181.2:c.769C>G	NP_001184110.1:p.Gln257Glu