Canonical Allele Identifier: CA16607311
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 384538
dbSNP Id: rs1057521986

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185120C>T , CM000674.2:g.49185120C>T GRCh38
NC_000012.11:g.49578903C>T , CM000674.1:g.49578903C>T GRCh37
NC_000012.10:g.47865170C>T NCBI36
NG_008966.1:g.8959G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.1246G>A MANE Select ENSP00000301071.7:p.Gly416Ser
ENST00000547939.6:c.1141G>A ENSP00000450268.2:p.Gly381Ser
ENST00000550767.6:c.1141G>A ENSP00000446637.1:p.Gly381Ser
ENST00000550811.2:n.2279G>A
ENST00000552924.2:c.1141G>A ENSP00000448725.2:p.Gly381Ser
ENST00000679733.1:c.*702G>A ENSP00000505459.1:n.*702G>A
ENST00000295766.9:c.1246G>A ENSP00000439020.2:p.Gly416Ser
ENST00000301071.11:c.1246G>A ENSP00000301071.7:p.Gly416Ser
ENST00000550767.5:c.1141G>A ENSP00000446637.1:p.Gly381Ser
NM_001270399.1:c.1246G>A NP_001257328.1:p.Gly416Ser
NM_001270400.1:c.1141G>A NP_001257329.1:p.Gly381Ser
NM_006009.3:c.1246G>A NP_006000.2:p.Gly416Ser
NM_006009.4:c.1246G>A MANE Select NP_006000.2:p.Gly416Ser
NM_001270399.2:c.1246G>A NP_001257328.1:p.Gly416Ser
NM_001270400.2:c.1141G>A NP_001257329.1:p.Gly381Ser