Canonical Allele Identifier: CA185901

Gene: TUBA4A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219250479C>T , CM000664.2:g.219250479C>T	GRCh38
NC_000002.11:g.220115201C>T , CM000664.1:g.220115201C>T	GRCh37
NC_000002.10:g.219823445C>T	NCBI36
NG_029913.1:g.8438G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006000.3:c.1220G>A MANE Select	NP_005991.1:p.Trp407Ter
ENST00000248437.9:c.1220G>A MANE Select	ENSP00000248437.4:p.Trp407Ter
NM_001278552.1:c.1175G>A	NP_001265481.1:p.Trp392Ter
NM_001278552.2:c.1175G>A	NP_001265481.1:p.Trp392Ter
NM_006000.2:c.1220G>A	NP_005991.1:p.Trp407Ter
ENST00000248437.8:c.1220G>A	ENSP00000248437.4:p.Trp407Ter
ENST00000392088.6:c.1175G>A	ENSP00000375938.2:p.Trp392Ter
XM_005246832.1:c.1175G>A	XP_005246889.1:p.Trp392Ter
XM_017004824.1:c.761G>A	XP_016860313.1:p.Trp254Ter