Canonical Allele Identifier: CA16620316
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 421147
ClinVar RCV Id: RCV000486752
dbSNP Id: rs1064794940
gnomAD v4: 16-89935532-C-A
MyVariant Identifiers: chr16:g.90001940C>A (hg19) chr16:g.89935532C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935532C>A , CM000678.2:g.89935532C>A GRCh38
NC_000016.9:g.90001940C>A , CM000678.1:g.90001940C>A GRCh37
NC_000016.8:g.88529441C>A NCBI36
NG_027810.1:g.18524C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000315491.12:c.1081C>A MANE Select ENSP00000320295.7:p.Leu361Ile
ENST00000680788.1:n.4502C>A
ENST00000315491.11:c.1081C>A ENSP00000320295.7:p.Leu361Ile
ENST00000554444.5:c.865C>A ENSP00000451617.1:p.Leu289Ile
ENST00000555576.5:c.277+1954C>A ENSP00000452554.1:n.277+1954C>A
ENST00000555609.5:c.*1166C>A ENSP00000451276.1:n.*1166C>A
ENST00000556922.1:c.2122C>A ENSP00000451560.1:p.Leu708Ile
NM_001197181.1:c.865C>A NP_001184110.1:p.Leu289Ile
NM_006086.3:c.1081C>A NP_006077.2:p.Leu361Ile
NM_006086.4:c.1081C>A MANE Select NP_006077.2:p.Leu361Ile
NM_001197181.2:c.865C>A NP_001184110.1:p.Leu289Ile
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