Canonical Allele Identifier: CA173749

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 160152
• ClinVar RCV Id: RCV000147804 ; RCV000714137 ; RCV003927444
• dbSNP Id: rs199717430
• ExAC: 12:49580384 G / A
• gnomAD v2: 12-49580384-G-A
• gnomAD v3: 12-49186601-G-A
• gnomAD v4: 12-49186601-G-A
• MyVariant Identifiers: chr12:g.49580384G>A (hg19) ; chr12:g.49186601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186601G>A , CM000674.2:g.49186601G>A	GRCh38
NC_000012.11:g.49580384G>A , CM000674.1:g.49580384G>A	GRCh37
NC_000012.10:g.47866651G>A	NCBI36
NG_008966.1:g.7478C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.226+10C>T MANE Select	ENSP00000301071.7:n.226+10C>T
ENST00000547939.6:c.121+10C>T	ENSP00000450268.2:n.121+10C>T
ENST00000550767.6:c.121+10C>T	ENSP00000446637.1:n.121+10C>T
ENST00000550811.2:n.1259+10C>T
ENST00000552924.2:c.121+10C>T	ENSP00000448725.2:n.121+10C>T
ENST00000679733.1:c.236C>T	ENSP00000505459.1:p.Thr79Ile
ENST00000295766.9:c.226+10C>T	ENSP00000439020.2:n.226+10C>T
ENST00000301071.11:c.226+10C>T	ENSP00000301071.7:n.226+10C>T
ENST00000546918.1:c.236C>T	ENSP00000446613.1:p.Thr79Ile
ENST00000547939.5:c.121+10C>T	ENSP00000450268.1:n.121+10C>T
ENST00000548363.1:n.230+10C>T
ENST00000550254.1:n.258C>T
ENST00000550767.5:c.121+10C>T	ENSP00000446637.1:n.121+10C>T
ENST00000552924.1:c.121+10C>T	ENSP00000448725.1:n.121+10C>T
NM_001270399.1:c.226+10C>T	NP_001257328.1:n.226+10C>T
NM_001270400.1:c.121+10C>T	NP_001257329.1:n.121+10C>T
NM_006009.3:c.226+10C>T	NP_006000.2:n.226+10C>T
NM_006009.4:c.226+10C>T MANE Select	NP_006000.2:n.226+10C>T
NM_001270399.2:c.226+10C>T	NP_001257328.1:n.226+10C>T
NM_001270400.2:c.121+10C>T	NP_001257329.1:n.121+10C>T