Canonical Allele Identifier: CA279027

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186333C>T , CM000674.2:g.49186333C>T	GRCh38
NC_000012.11:g.49580116C>T , CM000674.1:g.49580116C>T	GRCh37
NC_000012.10:g.47866383C>T	NCBI36
NG_008966.1:g.7746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.352G>A MANE Select	ENSP00000301071.7:p.Val118Met
ENST00000547939.6:c.247G>A	ENSP00000450268.2:p.Val83Met
ENST00000550767.6:c.247G>A	ENSP00000446637.1:p.Val83Met
ENST00000550811.2:n.1385G>A
ENST00000552924.2:c.247G>A	ENSP00000448725.2:p.Val83Met
ENST00000679733.1:c.375G>A	ENSP00000505459.1:p.Ser125=
ENST00000295766.9:c.352G>A	ENSP00000439020.2:p.Val118Met
ENST00000301071.11:c.352G>A	ENSP00000301071.7:p.Val118Met
ENST00000546918.1:c.504G>A	ENSP00000446613.1:p.Ser168=
ENST00000547939.5:c.247G>A	ENSP00000450268.1:p.Val83Met
ENST00000548363.1:n.356G>A
ENST00000550254.1:n.526G>A
ENST00000550767.5:c.247G>A	ENSP00000446637.1:p.Val83Met
ENST00000552924.1:c.247G>A	ENSP00000448725.1:p.Val83Met
NM_001270399.1:c.352G>A	NP_001257328.1:p.Val118Met
NM_001270400.1:c.247G>A	NP_001257329.1:p.Val83Met
NM_006009.3:c.352G>A	NP_006000.2:p.Val118Met
NM_006009.4:c.352G>A MANE Select	NP_006000.2:p.Val118Met
NM_001270399.2:c.352G>A	NP_001257328.1:p.Val118Met
NM_001270400.2:c.247G>A	NP_001257329.1:p.Val83Met