Canonical Allele Identifier: CA397477216

Gene: TUBB3

Linked Data

• ClinVar Variation Id: 644964
• ClinVar RCV Id: RCV000798971
• dbSNP Id: rs11554952
• gnomAD v2: 16-90002171-G-C
• gnomAD v4: 16-89935763-G-C
• MyVariant Identifiers: chr16:g.90002171G>C (hg19) ; chr16:g.89935763G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935763G>C , CM000678.2:g.89935763G>C	GRCh38
NC_000016.9:g.90002171G>C , CM000678.1:g.90002171G>C	GRCh37
NC_000016.8:g.88529672G>C	NCBI36
NG_027810.1:g.18755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.1312G>C MANE Select	ENSP00000320295.7:p.Glu438Gln
ENST00000680788.1:n.4733G>C
ENST00000315491.11:c.1312G>C	ENSP00000320295.7:p.Glu438Gln
ENST00000554444.5:c.1096G>C	ENSP00000451617.1:p.Glu366Gln
ENST00000555576.5:c.277+2185G>C	ENSP00000452554.1:n.277+2185G>C
ENST00000555609.5:c.*1397G>C	ENSP00000451276.1:n.*1397G>C
ENST00000556922.1:c.2353G>C	ENSP00000451560.1:p.Glu785Gln
NM_001197181.1:c.1096G>C	NP_001184110.1:p.Glu366Gln
NM_006086.3:c.1312G>C	NP_006077.2:p.Glu438Gln
NM_006086.4:c.1312G>C MANE Select	NP_006077.2:p.Glu438Gln
NM_001197181.2:c.1096G>C	NP_001184110.1:p.Glu366Gln