Canonical Allele Identifier: CA2035022992
Gene: TUBA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185756C= , CM000674.2:g.49185756C= GRCh38
NC_000012.11:g.49579539C= , CM000674.1:g.49579539C= GRCh37
NC_000012.10:g.47865806C= NCBI36
NG_008966.1:g.8323G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.610G= MANE Select ENSP00000301071.7:p.Val204=
ENST00000547939.6:c.505G= ENSP00000450268.2:p.Val169=
ENST00000550767.6:c.505G= ENSP00000446637.1:p.Val169=
ENST00000550811.2:n.1643G=
ENST00000552924.2:c.505G= ENSP00000448725.2:p.Val169=
ENST00000679733.1:c.*66G= ENSP00000505459.1:n.*66G=
ENST00000295766.9:c.610G= ENSP00000439020.2:p.Val204=
ENST00000301071.11:c.610G= ENSP00000301071.7:p.Val204=
ENST00000546918.1:c.*66G= ENSP00000446613.1:n.*66G=
ENST00000547939.5:c.505G= ENSP00000450268.1:p.Val169=
ENST00000550767.5:c.505G= ENSP00000446637.1:p.Val169=
NM_001270399.1:c.610G= NP_001257328.1:p.Val204=
NM_001270400.1:c.505G= NP_001257329.1:p.Val169=
NM_006009.3:c.610G= NP_006000.2:p.Val204=
NM_006009.4:c.610G= MANE Select NP_006000.2:p.Val204=
NM_001270399.2:c.610G= NP_001257328.1:p.Val204=
NM_001270400.2:c.505G= NP_001257329.1:p.Val169=