Canonical Allele Identifier: CA397476222
Gene: TUBB3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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