Canonical Allele Identifier: CA2035021880
Gene: TUBA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185117C= , CM000674.2:g.49185117C= GRCh38
NC_000012.11:g.49578900C= , CM000674.1:g.49578900C= GRCh37
NC_000012.10:g.47865167C= NCBI36
NG_008966.1:g.8962G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.1249G= MANE Select ENSP00000301071.7:p.Glu417=
ENST00000547939.6:c.1144G= ENSP00000450268.2:p.Glu382=
ENST00000550767.6:c.1144G= ENSP00000446637.1:p.Glu382=
ENST00000550811.2:n.2282G=
ENST00000552924.2:c.1144G= ENSP00000448725.2:p.Glu382=
ENST00000679733.1:c.*705G= ENSP00000505459.1:n.*705G=
ENST00000295766.9:c.1249G= ENSP00000439020.2:p.Glu417=
ENST00000301071.11:c.1249G= ENSP00000301071.7:p.Glu417=
ENST00000550767.5:c.1144G= ENSP00000446637.1:p.Glu382=
NM_001270399.1:c.1249G= NP_001257328.1:p.Glu417=
NM_001270400.1:c.1144G= NP_001257329.1:p.Glu382=
NM_006009.3:c.1249G= NP_006000.2:p.Glu417=
NM_006009.4:c.1249G= MANE Select NP_006000.2:p.Glu417=
NM_001270399.2:c.1249G= NP_001257328.1:p.Glu417=
NM_001270400.2:c.1144G= NP_001257329.1:p.Glu382=