Canonical Allele Identifier: CA624455597

Gene: TUBB3

Linked Data

• dbSNP Id: rs1158272371
• gnomAD v2: 16-90002264-C-T
• gnomAD v4: 16-89935856-C-T
• MyVariant Identifiers: chr16:g.90002264C>T (hg19) ; chr16:g.89935856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935856C>T , CM000678.2:g.89935856C>T	GRCh38
NC_000016.9:g.90002264C>T , CM000678.1:g.90002264C>T	GRCh37
NC_000016.8:g.88529765C>T	NCBI36
NG_027810.1:g.18848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.*52C>T MANE Select	ENSP00000320295.7:n.*52C>T
ENST00000680788.1:n.4826C>T
ENST00000315491.11:c.*52C>T	ENSP00000320295.7:n.*52C>T
ENST00000554444.5:c.*52C>T	ENSP00000451617.1:n.*52C>T
ENST00000555576.5:c.277+2278C>T	ENSP00000452554.1:n.277+2278C>T
ENST00000555609.5:c.*1490C>T	ENSP00000451276.1:n.*1490C>T
ENST00000556922.1:c.*52C>T	ENSP00000451560.1:n.*52C>T
NM_001197181.1:c.*52C>T	NP_001184110.1:n.*52C>T
NM_006086.3:c.*52C>T	NP_006077.2:n.*52C>T
NM_006086.4:c.*52C>T MANE Select	NP_006077.2:n.*52C>T
NM_001197181.2:c.*52C>T	NP_001184110.1:n.*52C>T