Canonical Allele Identifier: CA10602637

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 267773
• ClinVar RCV Id: RCV000258578 ; RCV001782762
• dbSNP Id: rs587776983
• gnomAD v4: 19-6502209-G-A
• MyVariant Identifiers: chr19:g.6502220G>A (hg19) ; chr19:g.6502209G>A (hg38)
• PubMed: PMID:24785942 ; PMID:27809427

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6502209G>A , CM000681.2:g.6502209G>A	GRCh38
NC_000019.9:g.6502220G>A , CM000681.1:g.6502220G>A	GRCh37
NC_000019.8:g.6453220G>A	NCBI36
NG_033896.1:g.5640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.4C>T MANE Select	ENSP00000264071.1:p.Arg2Trp
ENST00000264071.6:c.4C>T	ENSP00000264071.1:p.Arg2Trp
ENST00000540257.5:c.4C>T	ENSP00000443590.1:p.Arg2Trp
ENST00000594075.5:c.4C>T	ENSP00000469936.1:p.Arg2Trp
ENST00000594276.5:c.4C>T	ENSP00000472481.1:p.Arg2Trp
ENST00000594290.5:c.4C>T	ENSP00000471503.1:p.Arg2Trp
ENST00000595324.5:c.4C>T	ENSP00000469560.1:p.Arg2Trp
ENST00000596926.5:c.4C>T	ENSP00000468843.1:p.Arg2Trp
ENST00000597686.5:c.139C>T	ENSP00000472375.1:p.Arg47Trp
ENST00000598006.1:c.4C>T	ENSP00000472795.1:p.Arg2Trp
ENST00000598635.1:c.157C>T	ENSP00000470627.1:p.Arg53Trp
ENST00000600216.5:c.4C>T	ENSP00000470983.1:p.Arg2Trp
ENST00000601152.5:c.4C>T	ENSP00000471320.1:p.Arg2Trp
ENST00000601640.5:c.4C>T	ENSP00000469660.1:p.Arg2Trp
NM_001289123.1:c.157C>T	NP_001276052.1:p.Arg53Trp
NM_001289127.1:c.139C>T	NP_001276056.1:p.Arg47Trp
NM_001289129.1:c.4C>T	NP_001276058.1:p.Arg2Trp
NM_001289130.1:c.-170C>T	NP_001276059.1:n.-170C>T
NM_001289131.1:c.-137C>T	NP_001276060.1:n.-137C>T
NM_006087.3:c.4C>T	NP_006078.2:p.Arg2Trp
NM_006087.4:c.4C>T MANE Select	NP_006078.2:p.Arg2Trp
NM_001289123.2:c.157C>T	NP_001276052.1:p.Arg53Trp
NM_001289127.2:c.139C>T	NP_001276056.1:p.Arg47Trp
NM_001289129.2:c.4C>T	NP_001276058.1:p.Arg2Trp
NM_001289130.2:c.-170C>T	NP_001276059.1:n.-170C>T
NM_001289131.2:c.-137C>T	NP_001276060.1:n.-137C>T