Canonical Allele Identifier: CA213295

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 160191
• ClinVar RCV Id: RCV000147851 ; RCV000203608 ; RCV000255388
• dbSNP Id: rs587784505
• MyVariant Identifiers: chr16:g.90001151G>A (hg19) ; chr16:g.89934743G>A (hg38)
• PubMed: PMID:20301522

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89934743G>A , CM000678.2:g.89934743G>A	GRCh38
NC_000016.9:g.90001151G>A , CM000678.1:g.90001151G>A	GRCh37
NC_000016.8:g.88528652G>A	NCBI36
NG_027810.1:g.17735G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.292G>A MANE Select	ENSP00000320295.7:p.Gly98Ser
ENST00000680788.1:n.3713G>A
ENST00000315491.11:c.292G>A	ENSP00000320295.7:p.Gly98Ser
ENST00000553656.5:c.*275G>A	ENSP00000452001.1:n.*275G>A
ENST00000554444.5:c.76G>A	ENSP00000451617.1:p.Gly26Ser
ENST00000555576.5:c.277+1165G>A	ENSP00000452554.1:n.277+1165G>A
ENST00000555609.5:c.*377G>A	ENSP00000451276.1:n.*377G>A
ENST00000555810.5:c.76G>A	ENSP00000450538.1:p.Gly26Ser
ENST00000556536.5:c.*91G>A	ENSP00000451378.1:n.*91G>A
ENST00000556565.5:c.76G>A	ENSP00000452166.1:p.Gly26Ser
ENST00000556922.1:c.1333G>A	ENSP00000451560.1:p.Gly445Ser
ENST00000557490.5:c.*257G>A	ENSP00000451465.1:n.*257G>A
NM_001197181.1:c.76G>A	NP_001184110.1:p.Gly26Ser
NM_006086.3:c.292G>A	NP_006077.2:p.Gly98Ser
NM_006086.4:c.292G>A MANE Select	NP_006077.2:p.Gly98Ser
NM_001197181.2:c.76G>A	NP_001184110.1:p.Gly26Ser