Canonical Allele Identifier: CA2035022706

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185517A= , CM000674.2:g.49185517A=	GRCh38
NC_000012.11:g.49579300A= , CM000674.1:g.49579300A=	GRCh37
NC_000012.10:g.47865567A=	NCBI36
NG_008966.1:g.8562T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.849T= MANE Select	ENSP00000301071.7:p.His283=
ENST00000547939.6:c.744T=	ENSP00000450268.2:p.His248=
ENST00000550767.6:c.744T=	ENSP00000446637.1:p.His248=
ENST00000550811.2:n.1882T=
ENST00000552924.2:c.744T=	ENSP00000448725.2:p.His248=
ENST00000679733.1:c.*305T=	ENSP00000505459.1:n.*305T=
ENST00000295766.9:c.849T=	ENSP00000439020.2:p.His283=
ENST00000301071.11:c.849T=	ENSP00000301071.7:p.His283=
ENST00000550767.5:c.744T=	ENSP00000446637.1:p.His248=
NM_001270399.1:c.849T=	NP_001257328.1:p.His283=
NM_001270400.1:c.744T=	NP_001257329.1:p.His248=
NM_006009.3:c.849T=	NP_006000.2:p.His283=
NM_006009.4:c.849T= MANE Select	NP_006000.2:p.His283=
NM_001270399.2:c.849T=	NP_001257328.1:p.His283=
NM_001270400.2:c.744T=	NP_001257329.1:p.His248=