Canonical Allele Identifier: CA65995025
Community Standard Title: NM_006000.3(TUBA4A):c.4-254C>T
Gene: TUBA4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219252484G>A , CM000664.2:g.219252484G>A GRCh38
NC_000002.11:g.220117206G>A , CM000664.1:g.220117206G>A GRCh37
NC_000002.10:g.219825450G>A NCBI36
NG_029913.1:g.6433C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006000.3:c.4-254C>T MANE Select NP_005991.1:n.4-254C>T
ENST00000248437.9:c.4-254C>T MANE Select ENSP00000248437.4:n.4-254C>T
NM_001278552.1:c.-42-254C>T NP_001265481.1:n.-42-254C>T
NM_001278552.2:c.-42-254C>T NP_001265481.1:n.-42-254C>T
NM_006000.2:c.4-254C>T NP_005991.1:n.4-254C>T
ENST00000248437.8:c.4-254C>T ENSP00000248437.4:n.4-254C>T
ENST00000392088.6:c.-42-254C>T ENSP00000375938.2:n.-42-254C>T
ENST00000398989.2:c.-84-1161C>T ENSP00000396212.1:n.-84-1161C>T
ENST00000425551.1:c.10-254C>T ENSP00000404740.1:n.10-254C>T
ENST00000427737.5:c.-42-254C>T ENSP00000408194.1:n.-42-254C>T
ENST00000427737.6:c.-42-254C>T ENSP00000408194.1:n.-42-254C>T
ENST00000447205.1:c.-42-254C>T ENSP00000396061.1:n.-42-254C>T
ENST00000456818.5:c.73-254C>T ENSP00000416992.1:n.73-254C>T
ENST00000462806.5:n.62-254C>T
ENST00000475683.1:n.62-254C>T
ENST00000498660.1:n.47-771C>T
XM_005246832.1:c.-42-254C>T XP_005246889.1:n.-42-254C>T
XM_017004824.1:c.-233-771C>T XP_016860313.1:n.-233-771C>T