Canonical Allele Identifier: CA384642075
Gene: TUBA1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185855T>G , CM000674.2:g.49185855T>G GRCh38
NC_000012.11:g.49579638T>G , CM000674.1:g.49579638T>G GRCh37
NC_000012.10:g.47865905T>G NCBI36
NG_008966.1:g.8224A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.511A>C MANE Select ENSP00000301071.7:p.Ile171Leu
ENST00000547939.6:c.406A>C ENSP00000450268.2:p.Ile136Leu
ENST00000550767.6:c.406A>C ENSP00000446637.1:p.Ile136Leu
ENST00000550811.2:n.1544A>C
ENST00000552924.2:c.406A>C ENSP00000448725.2:p.Ile136Leu
ENST00000679733.1:c.534A>C ENSP00000505459.1:p.Leu178=
ENST00000295766.9:c.511A>C ENSP00000439020.2:p.Ile171Leu
ENST00000301071.11:c.511A>C ENSP00000301071.7:p.Ile171Leu
ENST00000546918.1:c.663A>C ENSP00000446613.1:p.Leu221=
ENST00000547939.5:c.406A>C ENSP00000450268.1:p.Ile136Leu
ENST00000550767.5:c.406A>C ENSP00000446637.1:p.Ile136Leu
NM_001270399.1:c.511A>C NP_001257328.1:p.Ile171Leu
NM_001270400.1:c.406A>C NP_001257329.1:p.Ile136Leu
NM_006009.3:c.511A>C NP_006000.2:p.Ile171Leu
NM_006009.4:c.511A>C MANE Select NP_006000.2:p.Ile171Leu
NM_001270399.2:c.511A>C NP_001257328.1:p.Ile171Leu
NM_001270400.2:c.406A>C NP_001257329.1:p.Ile136Leu