Canonical Allele Identifier: CA397475123

Gene: TUBB3

Linked Data

• MyVariant Identifiers: chr16:g.90001547T>C (hg19) ; chr16:g.89935139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935139T>C , CM000678.2:g.89935139T>C	GRCh38
NC_000016.9:g.90001547T>C , CM000678.1:g.90001547T>C	GRCh37
NC_000016.8:g.88529048T>C	NCBI36
NG_027810.1:g.18131T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.688T>C MANE Select	ENSP00000320295.7:p.Ser230Pro
ENST00000680788.1:n.4109T>C
ENST00000315491.11:c.688T>C	ENSP00000320295.7:p.Ser230Pro
ENST00000554444.5:c.472T>C	ENSP00000451617.1:p.Ser158Pro
ENST00000555576.5:c.277+1561T>C	ENSP00000452554.1:n.277+1561T>C
ENST00000555609.5:c.*773T>C	ENSP00000451276.1:n.*773T>C
ENST00000555810.5:c.472T>C	ENSP00000450538.1:p.Ser158Pro
ENST00000556922.1:c.1729T>C	ENSP00000451560.1:p.Ser577Pro
NM_001197181.1:c.472T>C	NP_001184110.1:p.Ser158Pro
NM_006086.3:c.688T>C	NP_006077.2:p.Ser230Pro
NM_006086.4:c.688T>C MANE Select	NP_006077.2:p.Ser230Pro
NM_001197181.2:c.472T>C	NP_001184110.1:p.Ser158Pro