Canonical Allele Identifier: CA397475117
Gene: TUBB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935136G>C , CM000678.2:g.89935136G>C GRCh38
NC_000016.9:g.90001544G>C , CM000678.1:g.90001544G>C GRCh37
NC_000016.8:g.88529045G>C NCBI36
NG_027810.1:g.18128G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000315491.12:c.685G>C MANE Select ENSP00000320295.7:p.Val229Leu
ENST00000680788.1:n.4106G>C
ENST00000315491.11:c.685G>C ENSP00000320295.7:p.Val229Leu
ENST00000554444.5:c.469G>C ENSP00000451617.1:p.Val157Leu
ENST00000555576.5:c.277+1558G>C ENSP00000452554.1:n.277+1558G>C
ENST00000555609.5:c.*770G>C ENSP00000451276.1:n.*770G>C
ENST00000555810.5:c.469G>C ENSP00000450538.1:p.Val157Leu
ENST00000556922.1:c.1726G>C ENSP00000451560.1:p.Val576Leu
NM_001197181.1:c.469G>C NP_001184110.1:p.Val157Leu
NM_006086.3:c.685G>C NP_006077.2:p.Val229Leu
NM_006086.4:c.685G>C MANE Select NP_006077.2:p.Val229Leu
NM_001197181.2:c.469G>C NP_001184110.1:p.Val157Leu