Canonical Allele Identifier: CA14274121
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1261232
ClinVar RCV Id: RCV001671633
dbSNP Id: rs1135425
gnomAD v2: 16-90002290-T-C
gnomAD v3: 16-89935882-T-C
gnomAD v4: 16-89935882-T-C
MyVariant Identifiers: chr16:g.90002290T>C (hg19) chr16:g.89935882T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935882T>C , CM000678.2:g.89935882T>C GRCh38
NC_000016.9:g.90002290T>C , CM000678.1:g.90002290T>C GRCh37
NC_000016.8:g.88529791T>C NCBI36
NG_027810.1:g.18874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.*78T>C MANE Select ENSP00000320295.7:n.*78T>C
ENST00000680788.1:n.4852T>C
ENST00000315491.11:c.*78T>C ENSP00000320295.7:n.*78T>C
ENST00000554444.5:c.*78T>C ENSP00000451617.1:n.*78T>C
ENST00000555576.5:c.277+2304T>C ENSP00000452554.1:n.277+2304T>C
ENST00000555609.5:c.*1516T>C ENSP00000451276.1:n.*1516T>C
ENST00000556922.1:c.*78T>C ENSP00000451560.1:n.*78T>C
NM_001197181.1:c.*78T>C NP_001184110.1:n.*78T>C
NM_006086.3:c.*78T>C NP_006077.2:n.*78T>C
NM_006086.4:c.*78T>C MANE Select NP_006077.2:n.*78T>C
NM_001197181.2:c.*78T>C NP_001184110.1:n.*78T>C
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