Canonical Allele Identifier: CA286619270

Gene: TUBB3

Linked Data

• dbSNP Id: rs866808095
• gnomAD v3: 16-89935417-C-T
• gnomAD v4: 16-89935417-C-T
• COSMIC: COSM3513378
• MyVariant Identifiers: chr16:g.90001825C>T (hg19) ; chr16:g.89935417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935417C>T , CM000678.2:g.89935417C>T	GRCh38
NC_000016.9:g.90001825C>T , CM000678.1:g.90001825C>T	GRCh37
NC_000016.8:g.88529326C>T	NCBI36
NG_027810.1:g.18409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.966C>T MANE Select	ENSP00000320295.7:p.Ser322=
ENST00000680788.1:n.4387C>T
ENST00000315491.11:c.966C>T	ENSP00000320295.7:p.Ser322=
ENST00000554444.5:c.750C>T	ENSP00000451617.1:p.Ser250=
ENST00000555576.5:c.277+1839C>T	ENSP00000452554.1:n.277+1839C>T
ENST00000555609.5:c.*1051C>T	ENSP00000451276.1:n.*1051C>T
ENST00000556922.1:c.2007C>T	ENSP00000451560.1:p.Ser669=
NM_001197181.1:c.750C>T	NP_001184110.1:p.Ser250=
NM_006086.3:c.966C>T	NP_006077.2:p.Ser322=
NM_006086.4:c.966C>T MANE Select	NP_006077.2:p.Ser322=
NM_001197181.2:c.750C>T	NP_001184110.1:p.Ser250=