Canonical Allele Identifier: CA384637494
Gene: TUBA1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185384C>A , CM000674.2:g.49185384C>A GRCh38
NC_000012.11:g.49579167C>A , CM000674.1:g.49579167C>A GRCh37
NC_000012.10:g.47865434C>A NCBI36
NG_008966.1:g.8695G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.982G>T MANE Select ENSP00000301071.7:p.Val328Phe
ENST00000547939.6:c.877G>T ENSP00000450268.2:p.Val293Phe
ENST00000550767.6:c.877G>T ENSP00000446637.1:p.Val293Phe
ENST00000550811.2:n.2015G>T
ENST00000552924.2:c.877G>T ENSP00000448725.2:p.Val293Phe
ENST00000679733.1:c.*438G>T ENSP00000505459.1:n.*438G>T
ENST00000295766.9:c.982G>T ENSP00000439020.2:p.Val328Phe
ENST00000301071.11:c.982G>T ENSP00000301071.7:p.Val328Phe
ENST00000550767.5:c.877G>T ENSP00000446637.1:p.Val293Phe
NM_001270399.1:c.982G>T NP_001257328.1:p.Val328Phe
NM_001270400.1:c.877G>T NP_001257329.1:p.Val293Phe
NM_006009.3:c.982G>T NP_006000.2:p.Val328Phe
NM_006009.4:c.982G>T MANE Select NP_006000.2:p.Val328Phe
NM_001270399.2:c.982G>T NP_001257328.1:p.Val328Phe
NM_001270400.2:c.877G>T NP_001257329.1:p.Val293Phe