Canonical Allele Identifier: CA384646089

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1335104
• ClinVar RCV Id: RCV001816116
• dbSNP Id: rs2121248621
• MyVariant Identifiers: chr12:g.49580582C>G (hg19) ; chr12:g.49186799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186799C>G , CM000674.2:g.49186799C>G	GRCh38
NC_000012.11:g.49580582C>G , CM000674.1:g.49580582C>G	GRCh37
NC_000012.10:g.47866849C>G	NCBI36
NG_008966.1:g.7280G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.38G>C MANE Select	ENSP00000301071.7:p.Gly13Ala
ENST00000547939.6:c.-68G>C	ENSP00000450268.2:n.-68G>C
ENST00000550767.6:c.-68G>C	ENSP00000446637.1:n.-68G>C
ENST00000550811.2:n.1071G>C
ENST00000552924.2:c.-68G>C	ENSP00000448725.2:n.-68G>C
ENST00000679733.1:c.38G>C	ENSP00000505459.1:p.Gly13Ala
ENST00000295766.9:c.38G>C	ENSP00000439020.2:p.Gly13Ala
ENST00000301071.11:c.38G>C	ENSP00000301071.7:p.Gly13Ala
ENST00000546918.1:c.38G>C	ENSP00000446613.1:p.Gly13Ala
ENST00000547939.5:c.-68G>C	ENSP00000450268.1:n.-68G>C
ENST00000548363.1:n.42G>C
ENST00000550254.1:n.60G>C
ENST00000550767.5:c.-68G>C	ENSP00000446637.1:n.-68G>C
ENST00000550811.1:c.-68G>C	ENSP00000449016.1:n.-68G>C
ENST00000552924.1:c.-68G>C	ENSP00000448725.1:n.-68G>C
NM_001270399.1:c.38G>C	NP_001257328.1:p.Gly13Ala
NM_001270400.1:c.-68G>C	NP_001257329.1:n.-68G>C
NM_006009.3:c.38G>C	NP_006000.2:p.Gly13Ala
NM_006009.4:c.38G>C MANE Select	NP_006000.2:p.Gly13Ala
NM_001270399.2:c.38G>C	NP_001257328.1:p.Gly13Ala
NM_001270400.2:c.-68G>C	NP_001257329.1:n.-68G>C