Canonical Allele Identifier: CA173756
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 160157
dbSNP Id: rs697624

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185913C>G , CM000674.2:g.49185913C>G GRCh38
NC_000012.11:g.49579696C>G , CM000674.1:g.49579696C>G GRCh37
NC_000012.10:g.47865963C>G NCBI36
NG_008966.1:g.8166G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.453G>C MANE Select ENSP00000301071.7:p.Ser151=
ENST00000547939.6:c.348G>C ENSP00000450268.2:p.Ser116=
ENST00000550767.6:c.348G>C ENSP00000446637.1:p.Ser116=
ENST00000550811.2:n.1486G>C
ENST00000552924.2:c.348G>C ENSP00000448725.2:p.Ser116=
ENST00000679733.1:c.476G>C ENSP00000505459.1:p.Arg159Pro
ENST00000295766.9:c.453G>C ENSP00000439020.2:p.Ser151=
ENST00000301071.11:c.453G>C ENSP00000301071.7:p.Ser151=
ENST00000546918.1:c.605G>C ENSP00000446613.1:p.Arg202Pro
ENST00000547939.5:c.348G>C ENSP00000450268.1:p.Ser116=
ENST00000550767.5:c.348G>C ENSP00000446637.1:p.Ser116=
NM_001270399.1:c.453G>C NP_001257328.1:p.Ser151=
NM_001270400.1:c.348G>C NP_001257329.1:p.Ser116=
NM_006009.3:c.453G>C NP_006000.2:p.Ser151=
NM_006009.4:c.453G>C MANE Select NP_006000.2:p.Ser151=
NM_001270399.2:c.453G>C NP_001257328.1:p.Ser151=
NM_001270400.2:c.348G>C NP_001257329.1:p.Ser116=