Canonical Allele Identifier: CA479717286
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs1329190065
MyVariant Identifiers: chr12:g.49579219A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185436A>T , CM000674.2:g.49185436A>T GRCh38
NC_000012.11:g.49579219A>T , CM000674.1:g.49579219A>T GRCh37
NC_000012.10:g.47865486A>T NCBI36
NG_008966.1:g.8643T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.930T>A MANE Select ENSP00000301071.7:p.Gly310=
ENST00000547939.6:c.825T>A ENSP00000450268.2:p.Gly275=
ENST00000550767.6:c.825T>A ENSP00000446637.1:p.Gly275=
ENST00000550811.2:n.1963T>A
ENST00000552924.2:c.825T>A ENSP00000448725.2:p.Gly275=
ENST00000679733.1:c.*386T>A ENSP00000505459.1:n.*386T>A
ENST00000295766.9:c.930T>A ENSP00000439020.2:p.Gly310=
ENST00000301071.11:c.930T>A ENSP00000301071.7:p.Gly310=
ENST00000550767.5:c.825T>A ENSP00000446637.1:p.Gly275=
NM_001270399.1:c.930T>A NP_001257328.1:p.Gly310=
NM_001270400.1:c.825T>A NP_001257329.1:p.Gly275=
NM_006009.3:c.930T>A NP_006000.2:p.Gly310=
NM_006009.4:c.930T>A MANE Select NP_006000.2:p.Gly310=
NM_001270399.2:c.930T>A NP_001257328.1:p.Gly310=
NM_001270400.2:c.825T>A NP_001257329.1:p.Gly275=