Canonical Allele Identifier: CA8256211

Gene: TUBB3

Linked Data

• dbSNP Id: rs768863709
• ExAC: 16:90001990 G / A
• gnomAD v2: 16-90001990-G-A
• gnomAD v4: 16-89935582-G-A
• MyVariant Identifiers: chr16:g.90001990G>A (hg19) ; chr16:g.89935582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935582G>A , CM000678.2:g.89935582G>A	GRCh38
NC_000016.9:g.90001990G>A , CM000678.1:g.90001990G>A	GRCh37
NC_000016.8:g.88529491G>A	NCBI36
NG_027810.1:g.18574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1131G>A MANE Select	ENSP00000320295.7:p.Leu377=
ENST00000680788.1:n.4552G>A
ENST00000315491.11:c.1131G>A	ENSP00000320295.7:p.Leu377=
ENST00000554444.5:c.915G>A	ENSP00000451617.1:p.Leu305=
ENST00000555576.5:c.277+2004G>A	ENSP00000452554.1:n.277+2004G>A
ENST00000555609.5:c.*1216G>A	ENSP00000451276.1:n.*1216G>A
ENST00000556922.1:c.2172G>A	ENSP00000451560.1:p.Leu724=
NM_001197181.1:c.915G>A	NP_001184110.1:p.Leu305=
NM_006086.3:c.1131G>A	NP_006077.2:p.Leu377=
NM_006086.4:c.1131G>A MANE Select	NP_006077.2:p.Leu377=
NM_001197181.2:c.915G>A	NP_001184110.1:p.Leu305=