Canonical Allele Identifier: CA8256152

Gene: TUBB3

Linked Data

• dbSNP Id: rs141584823
• ExAC: 16:90001549 G / A
• gnomAD v2: 16-90001549-G-A
• gnomAD v3: 16-89935141-G-A
• gnomAD v4: 16-89935141-G-A
• MyVariant Identifiers: chr16:g.90001549G>A (hg19) ; chr16:g.89935141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935141G>A , CM000678.2:g.89935141G>A	GRCh38
NC_000016.9:g.90001549G>A , CM000678.1:g.90001549G>A	GRCh37
NC_000016.8:g.88529050G>A	NCBI36
NG_027810.1:g.18133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000315491.12:c.690G>A MANE Select	ENSP00000320295.7:p.Ser230=
ENST00000680788.1:n.4111G>A
ENST00000315491.11:c.690G>A	ENSP00000320295.7:p.Ser230=
ENST00000554444.5:c.474G>A	ENSP00000451617.1:p.Ser158=
ENST00000555576.5:c.277+1563G>A	ENSP00000452554.1:n.277+1563G>A
ENST00000555609.5:c.*775G>A	ENSP00000451276.1:n.*775G>A
ENST00000555810.5:c.474G>A	ENSP00000450538.1:p.Ser158=
ENST00000556922.1:c.1731G>A	ENSP00000451560.1:p.Ser577=
NM_001197181.1:c.474G>A	NP_001184110.1:p.Ser158=
NM_006086.3:c.690G>A	NP_006077.2:p.Ser230=
NM_006086.4:c.690G>A MANE Select	NP_006077.2:p.Ser230=
NM_001197181.2:c.474G>A	NP_001184110.1:p.Ser158=