Canonical Allele Identifier: CA384638385
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 438589
dbSNP Id: rs1555162325

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185446G>A , CM000674.2:g.49185446G>A GRCh38
NC_000012.11:g.49579229G>A , CM000674.1:g.49579229G>A GRCh37
NC_000012.10:g.47865496G>A NCBI36
NG_008966.1:g.8633C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.920C>T MANE Select ENSP00000301071.7:p.Pro307Leu
ENST00000547939.6:c.815C>T ENSP00000450268.2:p.Pro272Leu
ENST00000550767.6:c.815C>T ENSP00000446637.1:p.Pro272Leu
ENST00000550811.2:n.1953C>T
ENST00000552924.2:c.815C>T ENSP00000448725.2:p.Pro272Leu
ENST00000679733.1:c.*376C>T ENSP00000505459.1:n.*376C>T
ENST00000295766.9:c.920C>T ENSP00000439020.2:p.Pro307Leu
ENST00000301071.11:c.920C>T ENSP00000301071.7:p.Pro307Leu
ENST00000550767.5:c.815C>T ENSP00000446637.1:p.Pro272Leu
NM_001270399.1:c.920C>T NP_001257328.1:p.Pro307Leu
NM_001270400.1:c.815C>T NP_001257329.1:p.Pro272Leu
NM_006009.3:c.920C>T NP_006000.2:p.Pro307Leu
NM_006009.4:c.920C>T MANE Select NP_006000.2:p.Pro307Leu
NM_001270399.2:c.920C>T NP_001257328.1:p.Pro307Leu
NM_001270400.2:c.815C>T NP_001257329.1:p.Pro272Leu