Canonical Allele Identifier: CA6550223

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 715826
• ClinVar RCV Id: RCV000888358
• dbSNP Id: rs759228609
• ExAC: 12:49579300 A / G
• gnomAD v2: 12-49579300-A-G
• gnomAD v3: 12-49185517-A-G
• gnomAD v4: 12-49185517-A-G
• MyVariant Identifiers: chr12:g.49579300A>G (hg19) ; chr12:g.49185517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185517A>G , CM000674.2:g.49185517A>G	GRCh38
NC_000012.11:g.49579300A>G , CM000674.1:g.49579300A>G	GRCh37
NC_000012.10:g.47865567A>G	NCBI36
NG_008966.1:g.8562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.849T>C MANE Select	ENSP00000301071.7:p.His283=
ENST00000547939.6:c.744T>C	ENSP00000450268.2:p.His248=
ENST00000550767.6:c.744T>C	ENSP00000446637.1:p.His248=
ENST00000550811.2:n.1882T>C
ENST00000552924.2:c.744T>C	ENSP00000448725.2:p.His248=
ENST00000679733.1:c.*305T>C	ENSP00000505459.1:n.*305T>C
ENST00000295766.9:c.849T>C	ENSP00000439020.2:p.His283=
ENST00000301071.11:c.849T>C	ENSP00000301071.7:p.His283=
ENST00000550767.5:c.744T>C	ENSP00000446637.1:p.His248=
NM_001270399.1:c.849T>C	NP_001257328.1:p.His283=
NM_001270400.1:c.744T>C	NP_001257329.1:p.His248=
NM_006009.3:c.849T>C	NP_006000.2:p.His283=
NM_006009.4:c.849T>C MANE Select	NP_006000.2:p.His283=
NM_001270399.2:c.849T>C	NP_001257328.1:p.His283=
NM_001270400.2:c.744T>C	NP_001257329.1:p.His248=