Canonical Allele Identifier: CA6550204

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 1290545
• ClinVar RCV Id: RCV001715314
• dbSNP Id: rs761301881
• ExAC: 12:49578883 A / C
• gnomAD v2: 12-49578883-A-C
• gnomAD v3: 12-49185100-A-C
• gnomAD v4: 12-49185100-A-C
• MyVariant Identifiers: chr12:g.49578883A>C (hg19) ; chr12:g.49185100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185100A>C , CM000674.2:g.49185100A>C	GRCh38
NC_000012.11:g.49578883A>C , CM000674.1:g.49578883A>C	GRCh37
NC_000012.10:g.47865150A>C	NCBI36
NG_008966.1:g.8979T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.1266T>G MANE Select	ENSP00000301071.7:p.Arg422=
ENST00000547939.6:c.1161T>G	ENSP00000450268.2:p.Arg387=
ENST00000550767.6:c.1161T>G	ENSP00000446637.1:p.Arg387=
ENST00000550811.2:n.2299T>G
ENST00000552924.2:c.1161T>G	ENSP00000448725.2:p.Arg387=
ENST00000679733.1:c.*722T>G	ENSP00000505459.1:n.*722T>G
ENST00000295766.9:c.1266T>G	ENSP00000439020.2:p.Arg422=
ENST00000301071.11:c.1266T>G	ENSP00000301071.7:p.Arg422=
ENST00000550767.5:c.1161T>G	ENSP00000446637.1:p.Arg387=
NM_001270399.1:c.1266T>G	NP_001257328.1:p.Arg422=
NM_001270400.1:c.1161T>G	NP_001257329.1:p.Arg387=
NM_006009.3:c.1266T>G	NP_006000.2:p.Arg422=
NM_006009.4:c.1266T>G MANE Select	NP_006000.2:p.Arg422=
NM_001270399.2:c.1266T>G	NP_001257328.1:p.Arg422=
NM_001270400.2:c.1161T>G	NP_001257329.1:p.Arg387=