Canonical Allele Identifier: CA384642677

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 429321
• ClinVar RCV Id: RCV000493928 ; RCV000767510
• dbSNP Id: rs1131691318
• MyVariant Identifiers: chr12:g.49579722C>T (hg19) ; chr12:g.49185939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185939C>T , CM000674.2:g.49185939C>T	GRCh38
NC_000012.11:g.49579722C>T , CM000674.1:g.49579722C>T	GRCh37
NC_000012.10:g.47865989C>T	NCBI36
NG_008966.1:g.8140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.427G>A MANE Select	ENSP00000301071.7:p.Gly143Arg
ENST00000547939.6:c.322G>A	ENSP00000450268.2:p.Gly108Arg
ENST00000550767.6:c.322G>A	ENSP00000446637.1:p.Gly108Arg
ENST00000550811.2:n.1460G>A
ENST00000552924.2:c.322G>A	ENSP00000448725.2:p.Gly108Arg
ENST00000679733.1:c.450G>A	ENSP00000505459.1:p.Val150=
ENST00000295766.9:c.427G>A	ENSP00000439020.2:p.Gly143Arg
ENST00000301071.11:c.427G>A	ENSP00000301071.7:p.Gly143Arg
ENST00000546918.1:c.579G>A	ENSP00000446613.1:p.Val193=
ENST00000547939.5:c.322G>A	ENSP00000450268.1:p.Gly108Arg
ENST00000550767.5:c.322G>A	ENSP00000446637.1:p.Gly108Arg
ENST00000552924.1:c.322G>A	ENSP00000448725.1:p.Gly108Arg
NM_001270399.1:c.427G>A	NP_001257328.1:p.Gly143Arg
NM_001270400.1:c.322G>A	NP_001257329.1:p.Gly108Arg
NM_006009.3:c.427G>A	NP_006000.2:p.Gly143Arg
NM_006009.4:c.427G>A MANE Select	NP_006000.2:p.Gly143Arg
NM_001270399.2:c.427G>A	NP_001257328.1:p.Gly143Arg
NM_001270400.2:c.322G>A	NP_001257329.1:p.Gly108Arg