Canonical Allele Identifier: CA497194459
Gene: TUBB3 HGNC NCBI

Linked Data

dbSNP Id: rs770275598
MyVariant Identifiers: chr16:g.90002116G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89935708G>C , CM000678.2:g.89935708G>C GRCh38
NC_000016.9:g.90002116G>C , CM000678.1:g.90002116G>C GRCh37
NC_000016.8:g.88529617G>C NCBI36
NG_027810.1:g.18700G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000315491.12:c.1257G>C MANE Select ENSP00000320295.7:p.Val419=
ENST00000680788.1:n.4678G>C
ENST00000315491.11:c.1257G>C ENSP00000320295.7:p.Val419=
ENST00000554444.5:c.1041G>C ENSP00000451617.1:p.Val347=
ENST00000555576.5:c.277+2130G>C ENSP00000452554.1:n.277+2130G>C
ENST00000555609.5:c.*1342G>C ENSP00000451276.1:n.*1342G>C
ENST00000556922.1:c.2298G>C ENSP00000451560.1:p.Val766=
NM_001197181.1:c.1041G>C NP_001184110.1:p.Val347=
NM_006086.3:c.1257G>C NP_006077.2:p.Val419=
NM_006086.4:c.1257G>C MANE Select NP_006077.2:p.Val419=
NM_001197181.2:c.1041G>C NP_001184110.1:p.Val347=