Canonical Allele Identifier: CA10602631

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 267777
• ClinVar RCV Id: RCV000258532 ; RCV003325306
• dbSNP Id: rs886041010
• MyVariant Identifiers: chr19:g.6495779C>A (hg19) ; chr19:g.6495768C>A (hg38)
• PubMed: PMID:24785942 ; PMID:27809427

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495768C>A , CM000681.2:g.6495768C>A	GRCh38
NC_000019.9:g.6495779C>A , CM000681.1:g.6495779C>A	GRCh37
NC_000019.8:g.6446779C>A	NCBI36
NG_033896.1:g.12081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.731G>T MANE Select	ENSP00000264071.1:p.Gly244Val
ENST00000264071.6:c.731G>T	ENSP00000264071.1:p.Gly244Val
ENST00000540257.5:c.731G>T	ENSP00000443590.1:p.Gly244Val
ENST00000594276.5:c.419G>T	ENSP00000472481.1:p.Gly140Val
NM_001289123.1:c.884G>T	NP_001276052.1:p.Gly295Val
NM_001289127.1:c.866G>T	NP_001276056.1:p.Gly289Val
NM_001289129.1:c.731G>T	NP_001276058.1:p.Gly244Val
NM_001289130.1:c.515G>T	NP_001276059.1:p.Gly172Val
NM_001289131.1:c.515G>T	NP_001276060.1:p.Gly172Val
NM_006087.3:c.731G>T	NP_006078.2:p.Gly244Val
NM_006087.4:c.731G>T MANE Select	NP_006078.2:p.Gly244Val
NM_001289123.2:c.884G>T	NP_001276052.1:p.Gly295Val
NM_001289127.2:c.866G>T	NP_001276056.1:p.Gly289Val
NM_001289129.2:c.731G>T	NP_001276058.1:p.Gly244Val
NM_001289130.2:c.515G>T	NP_001276059.1:p.Gly172Val
NM_001289131.2:c.515G>T	NP_001276060.1:p.Gly172Val