Canonical Allele Identifier: CA2580086330

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 2010626
• ClinVar RCV Id: RCV002834127

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186851G>C , CM000674.2:g.49186851G>C	GRCh38
NC_000012.11:g.49580634G>C , CM000674.1:g.49580634G>C	GRCh37
NC_000012.10:g.47866901G>C	NCBI36
NG_008966.1:g.7228C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.4-18C>G MANE Select	ENSP00000301071.7:n.4-18C>G
ENST00000547939.6:c.-102-18C>G	ENSP00000450268.2:n.-102-18C>G
ENST00000550767.6:c.-102-18C>G	ENSP00000446637.1:n.-102-18C>G
ENST00000550811.2:n.1019C>G
ENST00000552924.2:c.-102-18C>G	ENSP00000448725.2:n.-102-18C>G
ENST00000679733.1:c.4-18C>G	ENSP00000505459.1:n.4-18C>G
ENST00000295766.9:c.4-18C>G	ENSP00000439020.2:n.4-18C>G
ENST00000301071.11:c.4-18C>G	ENSP00000301071.7:n.4-18C>G
ENST00000546918.1:c.4-18C>G	ENSP00000446613.1:n.4-18C>G
ENST00000547939.5:c.-102-18C>G	ENSP00000450268.1:n.-102-18C>G
ENST00000548363.1:n.8-18C>G
ENST00000550254.1:n.26-18C>G
ENST00000550767.5:c.-120C>G	ENSP00000446637.1:n.-120C>G
ENST00000550811.1:c.-102-18C>G	ENSP00000449016.1:n.-102-18C>G
ENST00000552924.1:c.-102-18C>G	ENSP00000448725.1:n.-102-18C>G
NM_001270399.1:c.4-18C>G	NP_001257328.1:n.4-18C>G
NM_001270400.1:c.-102-18C>G	NP_001257329.1:n.-102-18C>G
NM_006009.3:c.4-18C>G	NP_006000.2:n.4-18C>G
NM_006009.4:c.4-18C>G MANE Select	NP_006000.2:n.4-18C>G
NM_001270399.2:c.4-18C>G	NP_001257328.1:n.4-18C>G
NM_001270400.2:c.-102-18C>G	NP_001257329.1:n.-102-18C>G