Canonical Allele Identifier: CA8256249
Gene: TUBB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1619905
ClinVar RCV Id: RCV002098859
dbSNP Id: rs559133379
ExAC: 16:90002191 G / A
gnomAD v2: 16-90002191-G-A
gnomAD v3: 16-89935783-G-A
gnomAD v4: 16-89935783-G-A
MyVariant Identifiers: chr16:g.90002191G>A (hg19) chr16:g.89935783G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935783G>A , CM000678.2:g.89935783G>A GRCh38
NC_000016.9:g.90002191G>A , CM000678.1:g.90002191G>A GRCh37
NC_000016.8:g.88529692G>A NCBI36
NG_027810.1:g.18775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.1332G>A MANE Select ENSP00000320295.7:p.Ser444=
ENST00000680788.1:n.4753G>A
ENST00000315491.11:c.1332G>A ENSP00000320295.7:p.Ser444=
ENST00000554444.5:c.1116G>A ENSP00000451617.1:p.Ser372=
ENST00000555576.5:c.277+2205G>A ENSP00000452554.1:n.277+2205G>A
ENST00000555609.5:c.*1417G>A ENSP00000451276.1:n.*1417G>A
ENST00000556922.1:c.2373G>A ENSP00000451560.1:p.Ser791=
NM_001197181.1:c.1116G>A NP_001184110.1:p.Ser372=
NM_006086.3:c.1332G>A NP_006077.2:p.Ser444=
NM_006086.4:c.1332G>A MANE Select NP_006077.2:p.Ser444=
NM_001197181.2:c.1116G>A NP_001184110.1:p.Ser372=
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