Canonical Allele Identifier: CA397476523
Community Standard Title: NM_006086.4(TUBB3):c.1024G>A (p.Val342Met)
Gene: TUBB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935475G>A , CM000678.2:g.89935475G>A GRCh38
NC_000016.9:g.90001883G>A , CM000678.1:g.90001883G>A GRCh37
NC_000016.8:g.88529384G>A NCBI36
NG_027810.1:g.18467G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006086.4:c.1024G>A MANE Select NP_006077.2:p.Val342Met
ENST00000315491.12:c.1024G>A MANE Select ENSP00000320295.7:p.Val342Met
NM_001197181.1:c.808G>A NP_001184110.1:p.Val270Met
NM_001197181.2:c.808G>A NP_001184110.1:p.Val270Met
NM_006086.3:c.1024G>A NP_006077.2:p.Val342Met
ENST00000315491.11:c.1024G>A ENSP00000320295.7:p.Val342Met
ENST00000554444.5:c.808G>A ENSP00000451617.1:p.Val270Met
ENST00000555576.5:c.277+1897G>A ENSP00000452554.1:n.277+1897G>A
ENST00000555609.5:c.*1109G>A ENSP00000451276.1:n.*1109G>A
ENST00000556922.1:c.2065G>A ENSP00000451560.1:p.Val689Met
ENST00000680788.1:n.4445G>A