Canonical Allele Identifier: CA980479285
Gene: TUBB3 HGNC NCBI

Linked Data

dbSNP Id: rs375423325
gnomAD v3: 16-89935816-G-C
gnomAD v4: 16-89935816-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935816G>C , CM000678.2:g.89935816G>C GRCh38
NC_000016.9:g.90002224G>C , CM000678.1:g.90002224G>C GRCh37
NC_000016.8:g.88529725G>C NCBI36
NG_027810.1:g.18808G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.*12G>C MANE Select ENSP00000320295.7:n.*12G>C
ENST00000680788.1:n.4786G>C
ENST00000315491.11:c.*12G>C ENSP00000320295.7:n.*12G>C
ENST00000554444.5:c.*12G>C ENSP00000451617.1:n.*12G>C
ENST00000555576.5:c.277+2238G>C ENSP00000452554.1:n.277+2238G>C
ENST00000555609.5:c.*1450G>C ENSP00000451276.1:n.*1450G>C
ENST00000556922.1:c.*12G>C ENSP00000451560.1:n.*12G>C
NM_001197181.1:c.*12G>C NP_001184110.1:n.*12G>C
NM_006086.3:c.*12G>C NP_006077.2:n.*12G>C
NM_006086.4:c.*12G>C MANE Select NP_006077.2:n.*12G>C
NM_001197181.2:c.*12G>C NP_001184110.1:n.*12G>C
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