Canonical Allele Identifier: CA2035022360
Gene: TUBA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185396C= , CM000674.2:g.49185396C= GRCh38
NC_000012.11:g.49579179C= , CM000674.1:g.49579179C= GRCh37
NC_000012.10:g.47865446C= NCBI36
NG_008966.1:g.8683G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.970G= MANE Select ENSP00000301071.7:p.Val324=
ENST00000547939.6:c.865G= ENSP00000450268.2:p.Val289=
ENST00000550767.6:c.865G= ENSP00000446637.1:p.Val289=
ENST00000550811.2:n.2003G=
ENST00000552924.2:c.865G= ENSP00000448725.2:p.Val289=
ENST00000679733.1:c.*426G= ENSP00000505459.1:n.*426G=
ENST00000295766.9:c.970G= ENSP00000439020.2:p.Val324=
ENST00000301071.11:c.970G= ENSP00000301071.7:p.Val324=
ENST00000550767.5:c.865G= ENSP00000446637.1:p.Val289=
NM_001270399.1:c.970G= NP_001257328.1:p.Val324=
NM_001270400.1:c.865G= NP_001257329.1:p.Val289=
NM_006009.3:c.970G= NP_006000.2:p.Val324=
NM_006009.4:c.970G= MANE Select NP_006000.2:p.Val324=
NM_001270399.2:c.970G= NP_001257328.1:p.Val324=
NM_001270400.2:c.865G= NP_001257329.1:p.Val289=