Canonical Allele Identifier: CA210032

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 217025
• ClinVar RCV Id: RCV002515471
• dbSNP Id: rs767399782
• COSMIC: COSM1002959
• MyVariant Identifiers: chr19:g.6495747C>T (hg19) ; chr19:g.6495736C>T (hg38)
• PubMed: PMID:25085639 ; PMID:25326637 ; PMID:27809427

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495736C>T , CM000681.2:g.6495736C>T	GRCh38
NC_000019.9:g.6495747C>T , CM000681.1:g.6495747C>T	GRCh37
NC_000019.8:g.6446747C>T	NCBI36
NG_033896.1:g.12113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264071.7:c.763G>A MANE Select	ENSP00000264071.1:p.Val255Ile
ENST00000264071.6:c.763G>A	ENSP00000264071.1:p.Val255Ile
ENST00000540257.5:c.763G>A	ENSP00000443590.1:p.Val255Ile
ENST00000594276.5:c.451G>A	ENSP00000472481.1:p.Val151Ile
NM_001289123.1:c.916G>A	NP_001276052.1:p.Val306Ile
NM_001289127.1:c.898G>A	NP_001276056.1:p.Val300Ile
NM_001289129.1:c.763G>A	NP_001276058.1:p.Val255Ile
NM_001289130.1:c.547G>A	NP_001276059.1:p.Val183Ile
NM_001289131.1:c.547G>A	NP_001276060.1:p.Val183Ile
NM_006087.3:c.763G>A	NP_006078.2:p.Val255Ile
NM_006087.4:c.763G>A MANE Select	NP_006078.2:p.Val255Ile
NM_001289123.2:c.916G>A	NP_001276052.1:p.Val306Ile
NM_001289127.2:c.898G>A	NP_001276056.1:p.Val300Ile
NM_001289129.2:c.763G>A	NP_001276058.1:p.Val255Ile
NM_001289130.2:c.547G>A	NP_001276059.1:p.Val183Ile
NM_001289131.2:c.547G>A	NP_001276060.1:p.Val183Ile