Canonical Allele Identifier: CA9127326

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 330263
• ClinVar RCV Id: RCV000285444 ; RCV000340366 ; RCV001636927 ; RCV001723918
• dbSNP Id: rs2071347
• ExAC: 19:6495736 A / G
• gnomAD v2: 19-6495736-A-G
• gnomAD v3: 19-6495725-A-G
• gnomAD v4: 19-6495725-A-G
• MyVariant Identifiers: chr19:g.6495736A>G (hg19) ; chr19:g.6495725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495725A>G , CM000681.2:g.6495725A>G	GRCh38
NC_000019.9:g.6495736A>G , CM000681.1:g.6495736A>G	GRCh37
NC_000019.8:g.6446736A>G	NCBI36
NG_033896.1:g.12124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264071.7:c.774T>C MANE Select	ENSP00000264071.1:p.Val258=
ENST00000264071.6:c.774T>C	ENSP00000264071.1:p.Val258=
ENST00000540257.5:c.774T>C	ENSP00000443590.1:p.Val258=
ENST00000594276.5:c.462T>C	ENSP00000472481.1:p.Val154=
NM_001289123.1:c.927T>C	NP_001276052.1:p.Val309=
NM_001289127.1:c.909T>C	NP_001276056.1:p.Val303=
NM_001289129.1:c.774T>C	NP_001276058.1:p.Val258=
NM_001289130.1:c.558T>C	NP_001276059.1:p.Val186=
NM_001289131.1:c.558T>C	NP_001276060.1:p.Val186=
NM_006087.3:c.774T>C	NP_006078.2:p.Val258=
NM_006087.4:c.774T>C MANE Select	NP_006078.2:p.Val258=
NM_001289123.2:c.927T>C	NP_001276052.1:p.Val309=
NM_001289127.2:c.909T>C	NP_001276056.1:p.Val303=
NM_001289129.2:c.774T>C	NP_001276058.1:p.Val258=
NM_001289130.2:c.558T>C	NP_001276059.1:p.Val186=
NM_001289131.2:c.558T>C	NP_001276060.1:p.Val186=