Canonical Allele Identifier: CA16606634
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 381536
dbSNP Id: rs1057521063

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185911A>T , CM000674.2:g.49185911A>T GRCh38
NC_000012.11:g.49579694A>T , CM000674.1:g.49579694A>T GRCh37
NC_000012.10:g.47865961A>T NCBI36
NG_008966.1:g.8168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.455T>A MANE Select ENSP00000301071.7:p.Leu152Gln
ENST00000547939.6:c.350T>A ENSP00000450268.2:p.Leu117Gln
ENST00000550767.6:c.350T>A ENSP00000446637.1:p.Leu117Gln
ENST00000550811.2:n.1488T>A
ENST00000552924.2:c.350T>A ENSP00000448725.2:p.Leu117Gln
ENST00000679733.1:c.478T>A ENSP00000505459.1:p.Cys160Ser
ENST00000295766.9:c.455T>A ENSP00000439020.2:p.Leu152Gln
ENST00000301071.11:c.455T>A ENSP00000301071.7:p.Leu152Gln
ENST00000546918.1:c.607T>A ENSP00000446613.1:p.Cys203Ser
ENST00000547939.5:c.350T>A ENSP00000450268.1:p.Leu117Gln
ENST00000550767.5:c.350T>A ENSP00000446637.1:p.Leu117Gln
NM_001270399.1:c.455T>A NP_001257328.1:p.Leu152Gln
NM_001270400.1:c.350T>A NP_001257329.1:p.Leu117Gln
NM_006009.3:c.455T>A NP_006000.2:p.Leu152Gln
NM_006009.4:c.455T>A MANE Select NP_006000.2:p.Leu152Gln
NM_001270399.2:c.455T>A NP_001257328.1:p.Leu152Gln
NM_001270400.2:c.350T>A NP_001257329.1:p.Leu117Gln