Canonical Allele Identifier: CA397476867
Gene: TUBB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935616T>C , CM000678.2:g.89935616T>C GRCh38
NC_000016.9:g.90002024T>C , CM000678.1:g.90002024T>C GRCh37
NC_000016.8:g.88529525T>C NCBI36
NG_027810.1:g.18608T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.1165T>C MANE Select ENSP00000320295.7:p.Phe389Leu
ENST00000680788.1:n.4586T>C
ENST00000315491.11:c.1165T>C ENSP00000320295.7:p.Phe389Leu
ENST00000554444.5:c.949T>C ENSP00000451617.1:p.Phe317Leu
ENST00000555576.5:c.277+2038T>C ENSP00000452554.1:n.277+2038T>C
ENST00000555609.5:c.*1250T>C ENSP00000451276.1:n.*1250T>C
ENST00000556922.1:c.2206T>C ENSP00000451560.1:p.Phe736Leu
NM_001197181.1:c.949T>C NP_001184110.1:p.Phe317Leu
NM_006086.3:c.1165T>C NP_006077.2:p.Phe389Leu
NM_006086.4:c.1165T>C MANE Select NP_006077.2:p.Phe389Leu
NM_001197181.2:c.949T>C NP_001184110.1:p.Phe317Leu