Canonical Allele Identifier: CA384644918

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 3184704
• ClinVar RCV Id: RCV004481573
• MyVariant Identifiers: chr12:g.49580444C>T (hg19) ; chr12:g.49186661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186661C>T , CM000674.2:g.49186661C>T	GRCh38
NC_000012.11:g.49580444C>T , CM000674.1:g.49580444C>T	GRCh37
NC_000012.10:g.47866711C>T	NCBI36
NG_008966.1:g.7418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.176G>A MANE Select	ENSP00000301071.7:p.Gly59Asp
ENST00000547939.6:c.71G>A	ENSP00000450268.2:p.Gly24Asp
ENST00000550767.6:c.71G>A	ENSP00000446637.1:p.Gly24Asp
ENST00000550811.2:n.1209G>A
ENST00000552924.2:c.71G>A	ENSP00000448725.2:p.Gly24Asp
ENST00000679733.1:c.176G>A	ENSP00000505459.1:p.Gly59Asp
ENST00000295766.9:c.176G>A	ENSP00000439020.2:p.Gly59Asp
ENST00000301071.11:c.176G>A	ENSP00000301071.7:p.Gly59Asp
ENST00000546918.1:c.176G>A	ENSP00000446613.1:p.Gly59Asp
ENST00000547939.5:c.71G>A	ENSP00000450268.1:p.Gly24Asp
ENST00000548363.1:n.180G>A
ENST00000550254.1:n.198G>A
ENST00000550767.5:c.71G>A	ENSP00000446637.1:p.Gly24Asp
ENST00000550811.1:c.71G>A	ENSP00000449016.1:p.Gly24Asp
ENST00000552924.1:c.71G>A	ENSP00000448725.1:p.Gly24Asp
NM_001270399.1:c.176G>A	NP_001257328.1:p.Gly59Asp
NM_001270400.1:c.71G>A	NP_001257329.1:p.Gly24Asp
NM_006009.3:c.176G>A	NP_006000.2:p.Gly59Asp
NM_006009.4:c.176G>A MANE Select	NP_006000.2:p.Gly59Asp
NM_001270399.2:c.176G>A	NP_001257328.1:p.Gly59Asp
NM_001270400.2:c.71G>A	NP_001257329.1:p.Gly24Asp