Canonical Allele Identifier: CA384640567

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 976320
• ClinVar RCV Id: RCV001253582
• dbSNP Id: rs1942171599
• MyVariant Identifiers: chr12:g.49579448A>C (hg19) ; chr12:g.49185665A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185665A>C , CM000674.2:g.49185665A>C	GRCh38
NC_000012.11:g.49579448A>C , CM000674.1:g.49579448A>C	GRCh37
NC_000012.10:g.47865715A>C	NCBI36
NG_008966.1:g.8414T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.701T>G MANE Select	ENSP00000301071.7:p.Ile234Ser
ENST00000547939.6:c.596T>G	ENSP00000450268.2:p.Ile199Ser
ENST00000550767.6:c.596T>G	ENSP00000446637.1:p.Ile199Ser
ENST00000550811.2:n.1734T>G
ENST00000552924.2:c.596T>G	ENSP00000448725.2:p.Ile199Ser
ENST00000679733.1:c.*157T>G	ENSP00000505459.1:n.*157T>G
ENST00000295766.9:c.701T>G	ENSP00000439020.2:p.Ile234Ser
ENST00000301071.11:c.701T>G	ENSP00000301071.7:p.Ile234Ser
ENST00000546918.1:c.*157T>G	ENSP00000446613.1:n.*157T>G
ENST00000547939.5:c.596T>G	ENSP00000450268.1:p.Ile199Ser
ENST00000550767.5:c.596T>G	ENSP00000446637.1:p.Ile199Ser
NM_001270399.1:c.701T>G	NP_001257328.1:p.Ile234Ser
NM_001270400.1:c.596T>G	NP_001257329.1:p.Ile199Ser
NM_006009.3:c.701T>G	NP_006000.2:p.Ile234Ser
NM_006009.4:c.701T>G MANE Select	NP_006000.2:p.Ile234Ser
NM_001270399.2:c.701T>G	NP_001257328.1:p.Ile234Ser
NM_001270400.2:c.596T>G	NP_001257329.1:p.Ile199Ser