Canonical Allele Identifier: CA497381219

Gene: TUBB3

Linked Data

• dbSNP Id: rs1366444780
• gnomAD v2: 16-90001771-C-T
• gnomAD v3: 16-89935363-C-T
• gnomAD v4: 16-89935363-C-T
• MyVariant Identifiers: chr16:g.90001771C>T (hg19) ; chr16:g.89935363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89935363C>T , CM000678.2:g.89935363C>T	GRCh38
NC_000016.9:g.90001771C>T , CM000678.1:g.90001771C>T	GRCh37
NC_000016.8:g.88529272C>T	NCBI36
NG_027810.1:g.18355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315491.12:c.912C>T MANE Select	ENSP00000320295.7:p.Asp304=
ENST00000680788.1:n.4333C>T
ENST00000315491.11:c.912C>T	ENSP00000320295.7:p.Asp304=
ENST00000554444.5:c.696C>T	ENSP00000451617.1:p.Asp232=
ENST00000555576.5:c.277+1785C>T	ENSP00000452554.1:n.277+1785C>T
ENST00000555609.5:c.*997C>T	ENSP00000451276.1:n.*997C>T
ENST00000556922.1:c.1953C>T	ENSP00000451560.1:p.Asp651=
NM_001197181.1:c.696C>T	NP_001184110.1:p.Asp232=
NM_006086.3:c.912C>T	NP_006077.2:p.Asp304=
NM_006086.4:c.912C>T MANE Select	NP_006077.2:p.Asp304=
NM_001197181.2:c.696C>T	NP_001184110.1:p.Asp232=