Canonical Allele Identifier: CA397476568
Gene: TUBB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935484A>C , CM000678.2:g.89935484A>C GRCh38
NC_000016.9:g.90001892A>C , CM000678.1:g.90001892A>C GRCh37
NC_000016.8:g.88529393A>C NCBI36
NG_027810.1:g.18476A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.1033A>C MANE Select ENSP00000320295.7:p.Ile345Leu
ENST00000680788.1:n.4454A>C
ENST00000315491.11:c.1033A>C ENSP00000320295.7:p.Ile345Leu
ENST00000554444.5:c.817A>C ENSP00000451617.1:p.Ile273Leu
ENST00000555576.5:c.277+1906A>C ENSP00000452554.1:n.277+1906A>C
ENST00000555609.5:c.*1118A>C ENSP00000451276.1:n.*1118A>C
ENST00000556922.1:c.2074A>C ENSP00000451560.1:p.Ile692Leu
NM_001197181.1:c.817A>C NP_001184110.1:p.Ile273Leu
NM_006086.3:c.1033A>C NP_006077.2:p.Ile345Leu
NM_006086.4:c.1033A>C MANE Select NP_006077.2:p.Ile345Leu
NM_001197181.2:c.817A>C NP_001184110.1:p.Ile273Leu