Canonical Allele Identifier: CA384636084

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 449342
• ClinVar RCV Id: RCV000522300 ; RCV000767417
• dbSNP Id: rs1555162299
• MyVariant Identifiers: chr12:g.49579053C>T (hg19) ; chr12:g.49185270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185270C>T , CM000674.2:g.49185270C>T	GRCh38
NC_000012.11:g.49579053C>T , CM000674.1:g.49579053C>T	GRCh37
NC_000012.10:g.47865320C>T	NCBI36
NG_008966.1:g.8809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1096G>A MANE Select	ENSP00000301071.7:p.Gly366Arg
ENST00000547939.6:c.991G>A	ENSP00000450268.2:p.Gly331Arg
ENST00000550767.6:c.991G>A	ENSP00000446637.1:p.Gly331Arg
ENST00000550811.2:n.2129G>A
ENST00000552924.2:c.991G>A	ENSP00000448725.2:p.Gly331Arg
ENST00000679733.1:c.*552G>A	ENSP00000505459.1:n.*552G>A
ENST00000295766.9:c.1096G>A	ENSP00000439020.2:p.Gly366Arg
ENST00000301071.11:c.1096G>A	ENSP00000301071.7:p.Gly366Arg
ENST00000550767.5:c.991G>A	ENSP00000446637.1:p.Gly331Arg
NM_001270399.1:c.1096G>A	NP_001257328.1:p.Gly366Arg
NM_001270400.1:c.991G>A	NP_001257329.1:p.Gly331Arg
NM_006009.3:c.1096G>A	NP_006000.2:p.Gly366Arg
NM_006009.4:c.1096G>A MANE Select	NP_006000.2:p.Gly366Arg
NM_001270399.2:c.1096G>A	NP_001257328.1:p.Gly366Arg
NM_001270400.2:c.991G>A	NP_001257329.1:p.Gly331Arg