Canonical Allele Identifier: CA384643040

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186323C>T , CM000674.2:g.49186323C>T	GRCh38
NC_000012.11:g.49580106C>T , CM000674.1:g.49580106C>T	GRCh37
NC_000012.10:g.47866373C>T	NCBI36
NG_008966.1:g.7756G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006009.4:c.362G>A MANE Select	NP_006000.2:p.Arg121Gln
ENST00000301071.12:c.362G>A MANE Select	ENSP00000301071.7:p.Arg121Gln
NM_001270399.1:c.362G>A	NP_001257328.1:p.Arg121Gln
NM_001270399.2:c.362G>A	NP_001257328.1:p.Arg121Gln
NM_001270400.1:c.257G>A	NP_001257329.1:p.Arg86Gln
NM_001270400.2:c.257G>A	NP_001257329.1:p.Arg86Gln
NM_006009.3:c.362G>A	NP_006000.2:p.Arg121Gln
ENST00000295766.9:c.362G>A	ENSP00000439020.2:p.Arg121Gln
ENST00000301071.11:c.362G>A	ENSP00000301071.7:p.Arg121Gln
ENST00000546918.1:c.514G>A	ENSP00000446613.1:p.Glu172Lys
ENST00000547939.5:c.257G>A	ENSP00000450268.1:p.Arg86Gln
ENST00000547939.6:c.257G>A	ENSP00000450268.2:p.Arg86Gln
ENST00000548363.1:n.366G>A
ENST00000550254.1:n.536G>A
ENST00000550767.5:c.257G>A	ENSP00000446637.1:p.Arg86Gln
ENST00000550767.6:c.257G>A	ENSP00000446637.1:p.Arg86Gln
ENST00000550811.2:n.1395G>A
ENST00000552924.1:c.257G>A	ENSP00000448725.1:p.Arg86Gln
ENST00000552924.2:c.257G>A	ENSP00000448725.2:p.Arg86Gln
ENST00000679733.1:c.385G>A	ENSP00000505459.1:p.Glu129Lys