Canonical Allele Identifier: CA384642529

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579698A>T (hg19) ; chr12:g.49185915A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185915A>T , CM000674.2:g.49185915A>T	GRCh38
NC_000012.11:g.49579698A>T , CM000674.1:g.49579698A>T	GRCh37
NC_000012.10:g.47865965A>T	NCBI36
NG_008966.1:g.8164T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.451T>A MANE Select	ENSP00000301071.7:p.Ser151Thr
ENST00000547939.6:c.346T>A	ENSP00000450268.2:p.Ser116Thr
ENST00000550767.6:c.346T>A	ENSP00000446637.1:p.Ser116Thr
ENST00000550811.2:n.1484T>A
ENST00000552924.2:c.346T>A	ENSP00000448725.2:p.Ser116Thr
ENST00000679733.1:c.474T>A	ENSP00000505459.1:p.Pro158=
ENST00000295766.9:c.451T>A	ENSP00000439020.2:p.Ser151Thr
ENST00000301071.11:c.451T>A	ENSP00000301071.7:p.Ser151Thr
ENST00000546918.1:c.603T>A	ENSP00000446613.1:p.Pro201=
ENST00000547939.5:c.346T>A	ENSP00000450268.1:p.Ser116Thr
ENST00000550767.5:c.346T>A	ENSP00000446637.1:p.Ser116Thr
NM_001270399.1:c.451T>A	NP_001257328.1:p.Ser151Thr
NM_001270400.1:c.346T>A	NP_001257329.1:p.Ser116Thr
NM_006009.3:c.451T>A	NP_006000.2:p.Ser151Thr
NM_006009.4:c.451T>A MANE Select	NP_006000.2:p.Ser151Thr
NM_001270399.2:c.451T>A	NP_001257328.1:p.Ser151Thr
NM_001270400.2:c.346T>A	NP_001257329.1:p.Ser116Thr