Canonical Allele Identifier: CA397477279

Gene: TUBB3

Linked Data

• gnomAD v4: 16-89935791-A-G
• MyVariant Identifiers: chr16:g.90002199A>G (hg19) ; chr16:g.89935791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935791A>G , CM000678.2:g.89935791A>G	GRCh38
NC_000016.9:g.90002199A>G , CM000678.1:g.90002199A>G	GRCh37
NC_000016.8:g.88529700A>G	NCBI36
NG_027810.1:g.18783A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1340A>G MANE Select	ENSP00000320295.7:p.Gln447Arg
ENST00000680788.1:n.4761A>G
ENST00000315491.11:c.1340A>G	ENSP00000320295.7:p.Gln447Arg
ENST00000554444.5:c.1124A>G	ENSP00000451617.1:p.Gln375Arg
ENST00000555576.5:c.277+2213A>G	ENSP00000452554.1:n.277+2213A>G
ENST00000555609.5:c.*1425A>G	ENSP00000451276.1:n.*1425A>G
ENST00000556922.1:c.2381A>G	ENSP00000451560.1:p.Gln794Arg
NM_001197181.1:c.1124A>G	NP_001184110.1:p.Gln375Arg
NM_006086.3:c.1340A>G	NP_006077.2:p.Gln447Arg
NM_006086.4:c.1340A>G MANE Select	NP_006077.2:p.Gln447Arg
NM_001197181.2:c.1124A>G	NP_001184110.1:p.Gln375Arg