Canonical Allele Identifier: CA403592971

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 499281
• ClinVar RCV Id: RCV000591466 ; RCV001266342
• dbSNP Id: rs1555754185
• MyVariant Identifiers: chr19:g.6496217C>T (hg19) ; chr19:g.6496206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6496206C>T , CM000681.2:g.6496206C>T	GRCh38
NC_000019.9:g.6496217C>T , CM000681.1:g.6496217C>T	GRCh37
NC_000019.8:g.6447217C>T	NCBI36
NG_033896.1:g.11643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.293G>A MANE Select	ENSP00000264071.1:p.Gly98Asp
ENST00000264071.6:c.293G>A	ENSP00000264071.1:p.Gly98Asp
ENST00000540257.5:c.293G>A	ENSP00000443590.1:p.Gly98Asp
ENST00000594075.5:c.160-77G>A	ENSP00000469936.1:n.160-77G>A
ENST00000594276.5:c.160-179G>A	ENSP00000472481.1:n.160-179G>A
ENST00000594290.5:c.*108G>A	ENSP00000471503.1:n.*108G>A
ENST00000595324.5:c.*322G>A	ENSP00000469560.1:n.*322G>A
ENST00000596291.1:c.77G>A	ENSP00000471880.1:p.Gly26Asp
ENST00000596926.5:c.*54G>A	ENSP00000468843.1:n.*54G>A
ENST00000597686.5:c.428G>A	ENSP00000472375.1:p.Gly143Asp
ENST00000598006.1:c.250G>A	ENSP00000472795.1:p.Ala84Thr
ENST00000598635.1:c.446G>A	ENSP00000470627.1:p.Gly149Asp
ENST00000600216.5:c.67-32G>A	ENSP00000470983.1:n.67-32G>A
ENST00000601152.5:c.217G>A	ENSP00000471320.1:p.Ala73Thr
ENST00000601640.5:c.293G>A	ENSP00000469660.1:p.Gly98Asp
NM_001289123.1:c.446G>A	NP_001276052.1:p.Gly149Asp
NM_001289127.1:c.428G>A	NP_001276056.1:p.Gly143Asp
NM_001289129.1:c.293G>A	NP_001276058.1:p.Gly98Asp
NM_001289130.1:c.77G>A	NP_001276059.1:p.Gly26Asp
NM_001289131.1:c.77G>A	NP_001276060.1:p.Gly26Asp
NM_006087.3:c.293G>A	NP_006078.2:p.Gly98Asp
NM_006087.4:c.293G>A MANE Select	NP_006078.2:p.Gly98Asp
NM_001289123.2:c.446G>A	NP_001276052.1:p.Gly149Asp
NM_001289127.2:c.428G>A	NP_001276056.1:p.Gly143Asp
NM_001289129.2:c.293G>A	NP_001276058.1:p.Gly98Asp
NM_001289130.2:c.77G>A	NP_001276059.1:p.Gly26Asp
NM_001289131.2:c.77G>A	NP_001276060.1:p.Gly26Asp