Canonical Allele Identifier: CA384646341

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49580610A>G (hg19) ; chr12:g.49186827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186827A>G , CM000674.2:g.49186827A>G	GRCh38
NC_000012.11:g.49580610A>G , CM000674.1:g.49580610A>G	GRCh37
NC_000012.10:g.47866877A>G	NCBI36
NG_008966.1:g.7252T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.10T>C MANE Select	ENSP00000301071.7:p.Cys4Arg
ENST00000547939.6:c.-96T>C	ENSP00000450268.2:n.-96T>C
ENST00000550767.6:c.-96T>C	ENSP00000446637.1:n.-96T>C
ENST00000550811.2:n.1043T>C
ENST00000552924.2:c.-96T>C	ENSP00000448725.2:n.-96T>C
ENST00000679733.1:c.10T>C	ENSP00000505459.1:p.Cys4Arg
ENST00000295766.9:c.10T>C	ENSP00000439020.2:p.Cys4Arg
ENST00000301071.11:c.10T>C	ENSP00000301071.7:p.Cys4Arg
ENST00000546918.1:c.10T>C	ENSP00000446613.1:p.Cys4Arg
ENST00000547939.5:c.-96T>C	ENSP00000450268.1:n.-96T>C
ENST00000548363.1:n.14T>C
ENST00000550254.1:n.32T>C
ENST00000550767.5:c.-96T>C	ENSP00000446637.1:n.-96T>C
ENST00000550811.1:c.-96T>C	ENSP00000449016.1:n.-96T>C
ENST00000552924.1:c.-96T>C	ENSP00000448725.1:n.-96T>C
NM_001270399.1:c.10T>C	NP_001257328.1:p.Cys4Arg
NM_001270400.1:c.-96T>C	NP_001257329.1:n.-96T>C
NM_006009.3:c.10T>C	NP_006000.2:p.Cys4Arg
NM_006009.4:c.10T>C MANE Select	NP_006000.2:p.Cys4Arg
NM_001270399.2:c.10T>C	NP_001257328.1:p.Cys4Arg
NM_001270400.2:c.-96T>C	NP_001257329.1:n.-96T>C