Canonical Allele Identifier: CA384639189

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579301T>A (hg19) ; chr12:g.49185518T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185518T>A , CM000674.2:g.49185518T>A	GRCh38
NC_000012.11:g.49579301T>A , CM000674.1:g.49579301T>A	GRCh37
NC_000012.10:g.47865568T>A	NCBI36
NG_008966.1:g.8561A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.848A>T MANE Select	ENSP00000301071.7:p.His283Leu
ENST00000547939.6:c.743A>T	ENSP00000450268.2:p.His248Leu
ENST00000550767.6:c.743A>T	ENSP00000446637.1:p.His248Leu
ENST00000550811.2:n.1881A>T
ENST00000552924.2:c.743A>T	ENSP00000448725.2:p.His248Leu
ENST00000679733.1:c.*304A>T	ENSP00000505459.1:n.*304A>T
ENST00000295766.9:c.848A>T	ENSP00000439020.2:p.His283Leu
ENST00000301071.11:c.848A>T	ENSP00000301071.7:p.His283Leu
ENST00000550767.5:c.743A>T	ENSP00000446637.1:p.His248Leu
NM_001270399.1:c.848A>T	NP_001257328.1:p.His283Leu
NM_001270400.1:c.743A>T	NP_001257329.1:p.His248Leu
NM_006009.3:c.848A>T	NP_006000.2:p.His283Leu
NM_006009.4:c.848A>T MANE Select	NP_006000.2:p.His283Leu
NM_001270399.2:c.848A>T	NP_001257328.1:p.His283Leu
NM_001270400.2:c.743A>T	NP_001257329.1:p.His248Leu