Canonical Allele Identifier: CA384638897

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 957529
• ClinVar RCV Id: RCV001230521 ; RCV001391277 ; RCV003987801
• dbSNP Id: rs1942169629
• MyVariant Identifiers: chr12:g.49579271T>C (hg19) ; chr12:g.49185488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185488T>C , CM000674.2:g.49185488T>C	GRCh38
NC_000012.11:g.49579271T>C , CM000674.1:g.49579271T>C	GRCh37
NC_000012.10:g.47865538T>C	NCBI36
NG_008966.1:g.8591A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.878A>G MANE Select	ENSP00000301071.7:p.Asn293Ser
ENST00000547939.6:c.773A>G	ENSP00000450268.2:p.Asn258Ser
ENST00000550767.6:c.773A>G	ENSP00000446637.1:p.Asn258Ser
ENST00000550811.2:n.1911A>G
ENST00000552924.2:c.773A>G	ENSP00000448725.2:p.Asn258Ser
ENST00000679733.1:c.*334A>G	ENSP00000505459.1:n.*334A>G
ENST00000295766.9:c.878A>G	ENSP00000439020.2:p.Asn293Ser
ENST00000301071.11:c.878A>G	ENSP00000301071.7:p.Asn293Ser
ENST00000550767.5:c.773A>G	ENSP00000446637.1:p.Asn258Ser
NM_001270399.1:c.878A>G	NP_001257328.1:p.Asn293Ser
NM_001270400.1:c.773A>G	NP_001257329.1:p.Asn258Ser
NM_006009.3:c.878A>G	NP_006000.2:p.Asn293Ser
NM_006009.4:c.878A>G MANE Select	NP_006000.2:p.Asn293Ser
NM_001270399.2:c.878A>G	NP_001257328.1:p.Asn293Ser
NM_001270400.2:c.773A>G	NP_001257329.1:p.Asn258Ser