Canonical Allele Identifier: CA213337
Community Standard Title: NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly)
Gene: TUBA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49186416T>C , CM000674.2:g.49186416T>C GRCh38
NC_000012.11:g.49580199T>C , CM000674.1:g.49580199T>C GRCh37
NC_000012.10:g.47866466T>C NCBI36
NG_008966.1:g.7663A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006009.4:c.269A>G MANE Select NP_006000.2:p.Glu90Gly
ENST00000301071.12:c.269A>G MANE Select ENSP00000301071.7:p.Glu90Gly
NM_001270399.1:c.269A>G NP_001257328.1:p.Glu90Gly
NM_001270399.2:c.269A>G NP_001257328.1:p.Glu90Gly
NM_001270400.1:c.164A>G NP_001257329.1:p.Glu55Gly
NM_001270400.2:c.164A>G NP_001257329.1:p.Glu55Gly
NM_006009.3:c.269A>G NP_006000.2:p.Glu90Gly
ENST00000295766.9:c.269A>G ENSP00000439020.2:p.Glu90Gly
ENST00000301071.11:c.269A>G ENSP00000301071.7:p.Glu90Gly
ENST00000546918.1:c.421A>G ENSP00000446613.1:p.Ser141Gly
ENST00000547939.5:c.164A>G ENSP00000450268.1:p.Glu55Gly
ENST00000547939.6:c.164A>G ENSP00000450268.2:p.Glu55Gly
ENST00000548363.1:n.273A>G
ENST00000550254.1:n.443A>G
ENST00000550767.5:c.164A>G ENSP00000446637.1:p.Glu55Gly
ENST00000550767.6:c.164A>G ENSP00000446637.1:p.Glu55Gly
ENST00000550811.2:n.1302A>G
ENST00000552924.1:c.164A>G ENSP00000448725.1:p.Glu55Gly
ENST00000552924.2:c.164A>G ENSP00000448725.2:p.Glu55Gly
ENST00000679733.1:c.292A>G ENSP00000505459.1:p.Ser98Gly