Canonical Allele Identifier: CA213158
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 7073
dbSNP Id: rs137853046

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185579G>T , CM000674.2:g.49185579G>T GRCh38
NC_000012.11:g.49579362G>T , CM000674.1:g.49579362G>T GRCh37
NC_000012.10:g.47865629G>T NCBI36
NG_008966.1:g.8500C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.787C>A MANE Select ENSP00000301071.7:p.Pro263Thr
ENST00000547939.6:c.682C>A ENSP00000450268.2:p.Pro228Thr
ENST00000550767.6:c.682C>A ENSP00000446637.1:p.Pro228Thr
ENST00000550811.2:n.1820C>A
ENST00000552924.2:c.682C>A ENSP00000448725.2:p.Pro228Thr
ENST00000679733.1:c.*243C>A ENSP00000505459.1:n.*243C>A
ENST00000295766.9:c.787C>A ENSP00000439020.2:p.Pro263Thr
ENST00000301071.11:c.787C>A ENSP00000301071.7:p.Pro263Thr
ENST00000550767.5:c.682C>A ENSP00000446637.1:p.Pro228Thr
NM_001270399.1:c.787C>A NP_001257328.1:p.Pro263Thr
NM_001270400.1:c.682C>A NP_001257329.1:p.Pro228Thr
NM_006009.3:c.787C>A NP_006000.2:p.Pro263Thr
NM_006009.4:c.787C>A MANE Select NP_006000.2:p.Pro263Thr
NM_001270399.2:c.787C>A NP_001257328.1:p.Pro263Thr
NM_001270400.2:c.682C>A NP_001257329.1:p.Pro228Thr