Canonical Allele Identifier: CA384644555

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49580387A>C (hg19) ; chr12:g.49186604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186604A>C , CM000674.2:g.49186604A>C	GRCh38
NC_000012.11:g.49580387A>C , CM000674.1:g.49580387A>C	GRCh37
NC_000012.10:g.47866654A>C	NCBI36
NG_008966.1:g.7475T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.226+7T>G MANE Select	ENSP00000301071.7:n.226+7T>G
ENST00000547939.6:c.121+7T>G	ENSP00000450268.2:n.121+7T>G
ENST00000550767.6:c.121+7T>G	ENSP00000446637.1:n.121+7T>G
ENST00000550811.2:n.1259+7T>G
ENST00000552924.2:c.121+7T>G	ENSP00000448725.2:n.121+7T>G
ENST00000679733.1:c.233T>G	ENSP00000505459.1:p.Leu78Trp
ENST00000295766.9:c.226+7T>G	ENSP00000439020.2:n.226+7T>G
ENST00000301071.11:c.226+7T>G	ENSP00000301071.7:n.226+7T>G
ENST00000546918.1:c.233T>G	ENSP00000446613.1:p.Leu78Trp
ENST00000547939.5:c.121+7T>G	ENSP00000450268.1:n.121+7T>G
ENST00000548363.1:n.230+7T>G
ENST00000550254.1:n.255T>G
ENST00000550767.5:c.121+7T>G	ENSP00000446637.1:n.121+7T>G
ENST00000552924.1:c.121+7T>G	ENSP00000448725.1:n.121+7T>G
NM_001270399.1:c.226+7T>G	NP_001257328.1:n.226+7T>G
NM_001270400.1:c.121+7T>G	NP_001257329.1:n.121+7T>G
NM_006009.3:c.226+7T>G	NP_006000.2:n.226+7T>G
NM_006009.4:c.226+7T>G MANE Select	NP_006000.2:n.226+7T>G
NM_001270399.2:c.226+7T>G	NP_001257328.1:n.226+7T>G
NM_001270400.2:c.121+7T>G	NP_001257329.1:n.121+7T>G