Canonical Allele Identifier: CA16606296
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 381537
ClinVar RCV Id: RCV000425962 RCV000767421
dbSNP Id: rs1057521064
MyVariant Identifiers: chr12:g.49580541C>G (hg19) chr12:g.49186758C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49186758C>G , CM000674.2:g.49186758C>G GRCh38
NC_000012.11:g.49580541C>G , CM000674.1:g.49580541C>G GRCh37
NC_000012.10:g.47866808C>G NCBI36
NG_008966.1:g.7321G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.79G>C MANE Select ENSP00000301071.7:p.Glu27Gln
ENST00000547939.6:c.-27G>C ENSP00000450268.2:n.-27G>C
ENST00000550767.6:c.-27G>C ENSP00000446637.1:n.-27G>C
ENST00000550811.2:n.1112G>C
ENST00000552924.2:c.-27G>C ENSP00000448725.2:n.-27G>C
ENST00000679733.1:c.79G>C ENSP00000505459.1:p.Glu27Gln
ENST00000295766.9:c.79G>C ENSP00000439020.2:p.Glu27Gln
ENST00000301071.11:c.79G>C ENSP00000301071.7:p.Glu27Gln
ENST00000546918.1:c.79G>C ENSP00000446613.1:p.Glu27Gln
ENST00000547939.5:c.-27G>C ENSP00000450268.1:n.-27G>C
ENST00000548363.1:n.83G>C
ENST00000550254.1:n.101G>C
ENST00000550767.5:c.-27G>C ENSP00000446637.1:n.-27G>C
ENST00000550811.1:c.-27G>C ENSP00000449016.1:n.-27G>C
ENST00000552924.1:c.-27G>C ENSP00000448725.1:n.-27G>C
NM_001270399.1:c.79G>C NP_001257328.1:p.Glu27Gln
NM_001270400.1:c.-27G>C NP_001257329.1:n.-27G>C
NM_006009.3:c.79G>C NP_006000.2:p.Glu27Gln
NM_006009.4:c.79G>C MANE Select NP_006000.2:p.Glu27Gln
NM_001270399.2:c.79G>C NP_001257328.1:p.Glu27Gln
NM_001270400.2:c.-27G>C NP_001257329.1:n.-27G>C
Search 100 bp 5'
Search 100 bp 3'