Canonical Allele Identifier: CA384639507

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 806884
• ClinVar RCV Id: RCV000994916
• dbSNP Id: rs1592259821
• MyVariant Identifiers: chr12:g.49579332C>T (hg19) ; chr12:g.49185549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185549C>T , CM000674.2:g.49185549C>T	GRCh38
NC_000012.11:g.49579332C>T , CM000674.1:g.49579332C>T	GRCh37
NC_000012.10:g.47865599C>T	NCBI36
NG_008966.1:g.8530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.817G>A MANE Select	ENSP00000301071.7:p.Ala273Thr
ENST00000547939.6:c.712G>A	ENSP00000450268.2:p.Ala238Thr
ENST00000550767.6:c.712G>A	ENSP00000446637.1:p.Ala238Thr
ENST00000550811.2:n.1850G>A
ENST00000552924.2:c.712G>A	ENSP00000448725.2:p.Ala238Thr
ENST00000679733.1:c.*273G>A	ENSP00000505459.1:n.*273G>A
ENST00000295766.9:c.817G>A	ENSP00000439020.2:p.Ala273Thr
ENST00000301071.11:c.817G>A	ENSP00000301071.7:p.Ala273Thr
ENST00000550767.5:c.712G>A	ENSP00000446637.1:p.Ala238Thr
NM_001270399.1:c.817G>A	NP_001257328.1:p.Ala273Thr
NM_001270400.1:c.712G>A	NP_001257329.1:p.Ala238Thr
NM_006009.3:c.817G>A	NP_006000.2:p.Ala273Thr
NM_006009.4:c.817G>A MANE Select	NP_006000.2:p.Ala273Thr
NM_001270399.2:c.817G>A	NP_001257328.1:p.Ala273Thr
NM_001270400.2:c.712G>A	NP_001257329.1:p.Ala238Thr