Canonical Allele Identifier: CA143913

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 50985
• ClinVar RCV Id: RCV000043681 ; RCV000255689
• dbSNP Id: rs483352809
• MyVariant Identifiers: chr19:g.6495765C>T (hg19) ; chr19:g.6495754C>T (hg38)
• PubMed: PMID:7983175 ; PMID:16707859 ; PMID:18466252 ; PMID:23582646 ; PMID:24706558 ; PMID:24785942 ; PMID:24850488 ; PMID:27809427

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495754C>T , CM000681.2:g.6495754C>T	GRCh38
NC_000019.9:g.6495765C>T , CM000681.1:g.6495765C>T	GRCh37
NC_000019.8:g.6446765C>T	NCBI36
NG_033896.1:g.12095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264071.7:c.745G>A MANE Select	ENSP00000264071.1:p.Asp249Asn
ENST00000264071.6:c.745G>A	ENSP00000264071.1:p.Asp249Asn
ENST00000540257.5:c.745G>A	ENSP00000443590.1:p.Asp249Asn
ENST00000594276.5:c.433G>A	ENSP00000472481.1:p.Asp145Asn
NM_001289123.1:c.898G>A	NP_001276052.1:p.Asp300Asn
NM_001289127.1:c.880G>A	NP_001276056.1:p.Asp294Asn
NM_001289129.1:c.745G>A	NP_001276058.1:p.Asp249Asn
NM_001289130.1:c.529G>A	NP_001276059.1:p.Asp177Asn
NM_001289131.1:c.529G>A	NP_001276060.1:p.Asp177Asn
NM_006087.3:c.745G>A	NP_006078.2:p.Asp249Asn
NM_006087.4:c.745G>A MANE Select	NP_006078.2:p.Asp249Asn
NM_001289123.2:c.898G>A	NP_001276052.1:p.Asp300Asn
NM_001289127.2:c.880G>A	NP_001276056.1:p.Asp294Asn
NM_001289129.2:c.745G>A	NP_001276058.1:p.Asp249Asn
NM_001289130.2:c.529G>A	NP_001276059.1:p.Asp177Asn
NM_001289131.2:c.529G>A	NP_001276060.1:p.Asp177Asn