Canonical Allele Identifier: CA397476937

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 437133
• ClinVar RCV Id: RCV000503348
• dbSNP Id: rs1555625639
• MyVariant Identifiers: chr16:g.90002054A>T (hg19) ; chr16:g.89935646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935646A>T , CM000678.2:g.89935646A>T	GRCh38
NC_000016.9:g.90002054A>T , CM000678.1:g.90002054A>T	GRCh37
NC_000016.8:g.88529555A>T	NCBI36
NG_027810.1:g.18638A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1195A>T MANE Select	ENSP00000320295.7:p.Thr399Ser
ENST00000680788.1:n.4616A>T
ENST00000315491.11:c.1195A>T	ENSP00000320295.7:p.Thr399Ser
ENST00000554444.5:c.979A>T	ENSP00000451617.1:p.Thr327Ser
ENST00000555576.5:c.277+2068A>T	ENSP00000452554.1:n.277+2068A>T
ENST00000555609.5:c.*1280A>T	ENSP00000451276.1:n.*1280A>T
ENST00000556922.1:c.2236A>T	ENSP00000451560.1:p.Thr746Ser
NM_001197181.1:c.979A>T	NP_001184110.1:p.Thr327Ser
NM_006086.3:c.1195A>T	NP_006077.2:p.Thr399Ser
NM_006086.4:c.1195A>T MANE Select	NP_006077.2:p.Thr399Ser
NM_001197181.2:c.979A>T	NP_001184110.1:p.Thr327Ser