Canonical Allele Identifier: CA350729878

Gene: TUBA4A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219251627G>A , CM000664.2:g.219251627G>A	GRCh38
NC_000002.11:g.220116349G>A , CM000664.1:g.220116349G>A	GRCh37
NC_000002.10:g.219824593G>A	NCBI36
NG_029913.1:g.7290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006000.3:c.313C>T MANE Select	NP_005991.1:p.Arg105Cys
ENST00000248437.9:c.313C>T MANE Select	ENSP00000248437.4:p.Arg105Cys
NM_001278552.1:c.268C>T	NP_001265481.1:p.Arg90Cys
NM_001278552.2:c.268C>T	NP_001265481.1:p.Arg90Cys
NM_006000.2:c.313C>T	NP_005991.1:p.Arg105Cys
ENST00000248437.8:c.313C>T	ENSP00000248437.4:p.Arg105Cys
ENST00000392088.6:c.268C>T	ENSP00000375938.2:p.Arg90Cys
ENST00000398989.2:c.-84-304C>T	ENSP00000396212.1:n.-84-304C>T
ENST00000425551.1:c.319C>T	ENSP00000404740.1:p.Arg107Cys
ENST00000427737.5:c.268C>T	ENSP00000408194.1:p.Arg90Cys
ENST00000427737.6:c.268C>T	ENSP00000408194.1:p.Arg90Cys
ENST00000447205.1:c.268C>T	ENSP00000396061.1:p.Arg90Cys
ENST00000456818.5:c.382C>T	ENSP00000416992.1:p.Arg128Cys
ENST00000462806.5:n.371C>T
ENST00000475683.1:n.665C>T
ENST00000498660.1:n.133C>T
XM_005246832.1:c.268C>T	XP_005246889.1:p.Arg90Cys
XM_017004824.1:c.-147C>T	XP_016860313.1:n.-147C>T