Canonical Allele Identifier: CA2035022844
Gene: TUBA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185613G= , CM000674.2:g.49185613G= GRCh38
NC_000012.11:g.49579396G= , CM000674.1:g.49579396G= GRCh37
NC_000012.10:g.47865663G= NCBI36
NG_008966.1:g.8466C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.753C= MANE Select ENSP00000301071.7:p.Asp251=
ENST00000547939.6:c.648C= ENSP00000450268.2:p.Asp216=
ENST00000550767.6:c.648C= ENSP00000446637.1:p.Asp216=
ENST00000550811.2:n.1786C=
ENST00000552924.2:c.648C= ENSP00000448725.2:p.Asp216=
ENST00000679733.1:c.*209C= ENSP00000505459.1:n.*209C=
ENST00000295766.9:c.753C= ENSP00000439020.2:p.Asp251=
ENST00000301071.11:c.753C= ENSP00000301071.7:p.Asp251=
ENST00000547939.5:c.648C= ENSP00000450268.1:p.Asp216=
ENST00000550767.5:c.648C= ENSP00000446637.1:p.Asp216=
NM_001270399.1:c.753C= NP_001257328.1:p.Asp251=
NM_001270400.1:c.648C= NP_001257329.1:p.Asp216=
NM_006009.3:c.753C= NP_006000.2:p.Asp251=
NM_006009.4:c.753C= MANE Select NP_006000.2:p.Asp251=
NM_001270399.2:c.753C= NP_001257328.1:p.Asp251=
NM_001270400.2:c.648C= NP_001257329.1:p.Asp216=