Canonical Allele Identifier: CA6550247

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 2903235
• ClinVar RCV Id: RCV003726617 ; RCV003909124
• dbSNP Id: rs697624
• ExAC: 12:49579696 C / T
• gnomAD v2: 12-49579696-C-T
• gnomAD v4: 12-49185913-C-T
• MyVariant Identifiers: chr12:g.49579696C>T (hg19) ; chr12:g.49185913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185913C>T , CM000674.2:g.49185913C>T	GRCh38
NC_000012.11:g.49579696C>T , CM000674.1:g.49579696C>T	GRCh37
NC_000012.10:g.47865963C>T	NCBI36
NG_008966.1:g.8166G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.453G>A MANE Select	ENSP00000301071.7:p.Ser151=
ENST00000547939.6:c.348G>A	ENSP00000450268.2:p.Ser116=
ENST00000550767.6:c.348G>A	ENSP00000446637.1:p.Ser116=
ENST00000550811.2:n.1486G>A
ENST00000552924.2:c.348G>A	ENSP00000448725.2:p.Ser116=
ENST00000679733.1:c.476G>A	ENSP00000505459.1:p.Arg159His
ENST00000295766.9:c.453G>A	ENSP00000439020.2:p.Ser151=
ENST00000301071.11:c.453G>A	ENSP00000301071.7:p.Ser151=
ENST00000546918.1:c.605G>A	ENSP00000446613.1:p.Arg202His
ENST00000547939.5:c.348G>A	ENSP00000450268.1:p.Ser116=
ENST00000550767.5:c.348G>A	ENSP00000446637.1:p.Ser116=
NM_001270399.1:c.453G>A	NP_001257328.1:p.Ser151=
NM_001270400.1:c.348G>A	NP_001257329.1:p.Ser116=
NM_006009.3:c.453G>A	NP_006000.2:p.Ser151=
NM_006009.4:c.453G>A MANE Select	NP_006000.2:p.Ser151=
NM_001270399.2:c.453G>A	NP_001257328.1:p.Ser151=
NM_001270400.2:c.348G>A	NP_001257329.1:p.Ser116=