Canonical Allele Identifier: CA2035023256
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs1942176012

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185996A>G , CM000674.2:g.49185996A>G GRCh38
NC_000012.11:g.49579779A>G , CM000674.1:g.49579779A>G GRCh37
NC_000012.10:g.47866046A>G NCBI36
NG_008966.1:g.8083T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.376-6T>C MANE Select ENSP00000301071.7:n.376-6T>C
ENST00000547939.6:c.271-6T>C ENSP00000450268.2:n.271-6T>C
ENST00000550767.6:c.271-6T>C ENSP00000446637.1:n.271-6T>C
ENST00000550811.2:n.1409-6T>C
ENST00000552924.2:c.271-6T>C ENSP00000448725.2:n.271-6T>C
ENST00000679733.1:c.399-6T>C ENSP00000505459.1:n.399-6T>C
ENST00000295766.9:c.376-6T>C ENSP00000439020.2:n.376-6T>C
ENST00000301071.11:c.376-6T>C ENSP00000301071.7:n.376-6T>C
ENST00000546918.1:c.528-6T>C ENSP00000446613.1:n.528-6T>C
ENST00000547939.5:c.271-6T>C ENSP00000450268.1:n.271-6T>C
ENST00000550767.5:c.271-6T>C ENSP00000446637.1:n.271-6T>C
ENST00000552924.1:c.271-6T>C ENSP00000448725.1:n.271-6T>C
NM_001270399.1:c.376-6T>C NP_001257328.1:n.376-6T>C
NM_001270400.1:c.271-6T>C NP_001257329.1:n.271-6T>C
NM_006009.3:c.376-6T>C NP_006000.2:n.376-6T>C
NM_006009.4:c.376-6T>C MANE Select NP_006000.2:n.376-6T>C
NM_001270399.2:c.376-6T>C NP_001257328.1:n.376-6T>C
NM_001270400.2:c.271-6T>C NP_001257329.1:n.271-6T>C