Canonical Allele Identifier: CA384642622

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579713C>A (hg19) ; chr12:g.49185930C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185930C>A , CM000674.2:g.49185930C>A	GRCh38
NC_000012.11:g.49579713C>A , CM000674.1:g.49579713C>A	GRCh37
NC_000012.10:g.47865980C>A	NCBI36
NG_008966.1:g.8149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.436G>T MANE Select	ENSP00000301071.7:p.Gly146Cys
ENST00000547939.6:c.331G>T	ENSP00000450268.2:p.Gly111Cys
ENST00000550767.6:c.331G>T	ENSP00000446637.1:p.Gly111Cys
ENST00000550811.2:n.1469G>T
ENST00000552924.2:c.331G>T	ENSP00000448725.2:p.Gly111Cys
ENST00000679733.1:c.459G>T	ENSP00000505459.1:p.Leu153=
ENST00000295766.9:c.436G>T	ENSP00000439020.2:p.Gly146Cys
ENST00000301071.11:c.436G>T	ENSP00000301071.7:p.Gly146Cys
ENST00000546918.1:c.588G>T	ENSP00000446613.1:p.Leu196=
ENST00000547939.5:c.331G>T	ENSP00000450268.1:p.Gly111Cys
ENST00000550767.5:c.331G>T	ENSP00000446637.1:p.Gly111Cys
ENST00000552924.1:c.331G>T	ENSP00000448725.1:p.Gly111Cys
NM_001270399.1:c.436G>T	NP_001257328.1:p.Gly146Cys
NM_001270400.1:c.331G>T	NP_001257329.1:p.Gly111Cys
NM_006009.3:c.436G>T	NP_006000.2:p.Gly146Cys
NM_006009.4:c.436G>T MANE Select	NP_006000.2:p.Gly146Cys
NM_001270399.2:c.436G>T	NP_001257328.1:p.Gly146Cys
NM_001270400.2:c.331G>T	NP_001257329.1:p.Gly111Cys