Canonical Allele Identifier: CA479717413

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1942169719
• MyVariant Identifiers: chr12:g.49579282T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185499T>C , CM000674.2:g.49185499T>C	GRCh38
NC_000012.11:g.49579282T>C , CM000674.1:g.49579282T>C	GRCh37
NC_000012.10:g.47865549T>C	NCBI36
NG_008966.1:g.8580A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.867A>G MANE Select	ENSP00000301071.7:p.Ala289=
ENST00000547939.6:c.762A>G	ENSP00000450268.2:p.Ala254=
ENST00000550767.6:c.762A>G	ENSP00000446637.1:p.Ala254=
ENST00000550811.2:n.1900A>G
ENST00000552924.2:c.762A>G	ENSP00000448725.2:p.Ala254=
ENST00000679733.1:c.*323A>G	ENSP00000505459.1:n.*323A>G
ENST00000295766.9:c.867A>G	ENSP00000439020.2:p.Ala289=
ENST00000301071.11:c.867A>G	ENSP00000301071.7:p.Ala289=
ENST00000550767.5:c.762A>G	ENSP00000446637.1:p.Ala254=
NM_001270399.1:c.867A>G	NP_001257328.1:p.Ala289=
NM_001270400.1:c.762A>G	NP_001257329.1:p.Ala254=
NM_006009.3:c.867A>G	NP_006000.2:p.Ala289=
NM_006009.4:c.867A>G MANE Select	NP_006000.2:p.Ala289=
NM_001270399.2:c.867A>G	NP_001257328.1:p.Ala289=
NM_001270400.2:c.762A>G	NP_001257329.1:p.Ala254=