Canonical Allele Identifier: CA6550297

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 259901
• ClinVar RCV Id: RCV000251362 ; RCV001711562
• dbSNP Id: rs111590199
• ExAC: 12:49580283 A / G
• gnomAD v2: 12-49580283-A-G
• gnomAD v3: 12-49186500-A-G
• gnomAD v4: 12-49186500-A-G
• MyVariant Identifiers: chr12:g.49580283A>G (hg19) ; chr12:g.49186500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186500A>G , CM000674.2:g.49186500A>G	GRCh38
NC_000012.11:g.49580283A>G , CM000674.1:g.49580283A>G	GRCh37
NC_000012.10:g.47866550A>G	NCBI36
NG_008966.1:g.7579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.227-42T>C MANE Select	ENSP00000301071.7:n.227-42T>C
ENST00000547939.6:c.122-42T>C	ENSP00000450268.2:n.122-42T>C
ENST00000550767.6:c.122-42T>C	ENSP00000446637.1:n.122-42T>C
ENST00000550811.2:n.1260-42T>C
ENST00000552924.2:c.122-42T>C	ENSP00000448725.2:n.122-42T>C
ENST00000679733.1:c.250-42T>C	ENSP00000505459.1:n.250-42T>C
ENST00000295766.9:c.227-42T>C	ENSP00000439020.2:n.227-42T>C
ENST00000301071.11:c.227-42T>C	ENSP00000301071.7:n.227-42T>C
ENST00000546918.1:c.337T>C	ENSP00000446613.1:p.Ser113Pro
ENST00000547939.5:c.122-42T>C	ENSP00000450268.1:n.122-42T>C
ENST00000548363.1:n.231-42T>C
ENST00000550254.1:n.359T>C
ENST00000550767.5:c.122-42T>C	ENSP00000446637.1:n.122-42T>C
ENST00000552924.1:c.122-42T>C	ENSP00000448725.1:n.122-42T>C
NM_001270399.1:c.227-42T>C	NP_001257328.1:n.227-42T>C
NM_001270400.1:c.122-42T>C	NP_001257329.1:n.122-42T>C
NM_006009.3:c.227-42T>C	NP_006000.2:n.227-42T>C
NM_006009.4:c.227-42T>C MANE Select	NP_006000.2:n.227-42T>C
NM_001270399.2:c.227-42T>C	NP_001257328.1:n.227-42T>C
NM_001270400.2:c.122-42T>C	NP_001257329.1:n.122-42T>C