Canonical Allele Identifier: CA16619552

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 421567
• ClinVar RCV Id: RCV000482824 ; RCV000501252 ; RCV000767453 ; RCV001376064
• dbSNP Id: rs1064795213
• gnomAD v4: 12-49186784-T-C
• MyVariant Identifiers: chr12:g.49580567T>C (hg19) ; chr12:g.49186784T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186784T>C , CM000674.2:g.49186784T>C	GRCh38
NC_000012.11:g.49580567T>C , CM000674.1:g.49580567T>C	GRCh37
NC_000012.10:g.47866834T>C	NCBI36
NG_008966.1:g.7295A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.53A>G MANE Select	ENSP00000301071.7:p.Asn18Ser
ENST00000547939.6:c.-53A>G	ENSP00000450268.2:n.-53A>G
ENST00000550767.6:c.-53A>G	ENSP00000446637.1:n.-53A>G
ENST00000550811.2:n.1086A>G
ENST00000552924.2:c.-53A>G	ENSP00000448725.2:n.-53A>G
ENST00000679733.1:c.53A>G	ENSP00000505459.1:p.Asn18Ser
ENST00000295766.9:c.53A>G	ENSP00000439020.2:p.Asn18Ser
ENST00000301071.11:c.53A>G	ENSP00000301071.7:p.Asn18Ser
ENST00000546918.1:c.53A>G	ENSP00000446613.1:p.Asn18Ser
ENST00000547939.5:c.-53A>G	ENSP00000450268.1:n.-53A>G
ENST00000548363.1:n.57A>G
ENST00000550254.1:n.75A>G
ENST00000550767.5:c.-53A>G	ENSP00000446637.1:n.-53A>G
ENST00000550811.1:c.-53A>G	ENSP00000449016.1:n.-53A>G
ENST00000552924.1:c.-53A>G	ENSP00000448725.1:n.-53A>G
NM_001270399.1:c.53A>G	NP_001257328.1:p.Asn18Ser
NM_001270400.1:c.-53A>G	NP_001257329.1:n.-53A>G
NM_006009.3:c.53A>G	NP_006000.2:p.Asn18Ser
NM_006009.4:c.53A>G MANE Select	NP_006000.2:p.Asn18Ser
NM_001270399.2:c.53A>G	NP_001257328.1:p.Asn18Ser
NM_001270400.2:c.-53A>G	NP_001257329.1:n.-53A>G