Canonical Allele Identifier: CA347846
Gene: TUBB HGNC NCBI

Linked Data

ClinVar Variation Id: 218925
ClinVar RCV Id: RCV000203282
dbSNP Id: rs864321676
MyVariant Identifiers: chr6:g.30688326C>A (hg19) chr6:g.30720549C>A (hg38)
PubMed: PMID:12239728 PMID:23324645 PMID:26637975
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30720549C>A , CM000668.2:g.30720549C>A GRCh38
NC_000006.11:g.30688326C>A , CM000668.1:g.30688326C>A GRCh37
NC_000006.10:g.30796305C>A NCBI36
NG_034142.1:g.5349C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327892.13:c.43C>A MANE Select ENSP00000339001.7:p.Gln15Lys
ENST00000681435.1:c.-159-1988C>A ENSP00000506665.1:n.-159-1988C>A
ENST00000327892.12:c.43C>A ENSP00000339001.7:p.Gln15Lys
NM_001293213.1:c.43C>A NP_001280142.1:p.Gln15Lys
NM_001293214.1:c.34+9C>A NP_001280143.1:n.34+9C>A
NM_178014.3:c.43C>A NP_821133.1:p.Gln15Lys
NR_120608.1:n.349C>A
NM_178014.4:c.43C>A MANE Select NP_821133.1:p.Gln15Lys
NM_001293213.2:c.43C>A NP_001280142.1:p.Gln15Lys
NM_001293214.2:c.34+9C>A NP_001280143.1:n.34+9C>A
NR_120608.2:n.198C>A
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