Canonical Allele Identifier: CA397476220

Gene: TUBB3

Linked Data

• MyVariant Identifiers: chr16:g.90001835G>C (hg19) ; chr16:g.89935427G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935427G>C , CM000678.2:g.89935427G>C	GRCh38
NC_000016.9:g.90001835G>C , CM000678.1:g.90001835G>C	GRCh37
NC_000016.8:g.88529336G>C	NCBI36
NG_027810.1:g.18419G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.976G>C MANE Select	ENSP00000320295.7:p.Val326Leu
ENST00000680788.1:n.4397G>C
ENST00000315491.11:c.976G>C	ENSP00000320295.7:p.Val326Leu
ENST00000554444.5:c.760G>C	ENSP00000451617.1:p.Val254Leu
ENST00000555576.5:c.277+1849G>C	ENSP00000452554.1:n.277+1849G>C
ENST00000555609.5:c.*1061G>C	ENSP00000451276.1:n.*1061G>C
ENST00000556922.1:c.2017G>C	ENSP00000451560.1:p.Val673Leu
NM_001197181.1:c.760G>C	NP_001184110.1:p.Val254Leu
NM_006086.3:c.976G>C	NP_006077.2:p.Val326Leu
NM_006086.4:c.976G>C MANE Select	NP_006077.2:p.Val326Leu
NM_001197181.2:c.760G>C	NP_001184110.1:p.Val254Leu