Canonical Allele Identifier: CA384640092
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs2121243738

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185618C>A , CM000674.2:g.49185618C>A GRCh38
NC_000012.11:g.49579401C>A , CM000674.1:g.49579401C>A GRCh37
NC_000012.10:g.47865668C>A NCBI36
NG_008966.1:g.8461G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.748G>T MANE Select ENSP00000301071.7:p.Val250Phe
ENST00000547939.6:c.643G>T ENSP00000450268.2:p.Val215Phe
ENST00000550767.6:c.643G>T ENSP00000446637.1:p.Val215Phe
ENST00000550811.2:n.1781G>T
ENST00000552924.2:c.643G>T ENSP00000448725.2:p.Val215Phe
ENST00000679733.1:c.*204G>T ENSP00000505459.1:n.*204G>T
ENST00000295766.9:c.748G>T ENSP00000439020.2:p.Val250Phe
ENST00000301071.11:c.748G>T ENSP00000301071.7:p.Val250Phe
ENST00000547939.5:c.643G>T ENSP00000450268.1:p.Val215Phe
ENST00000550767.5:c.643G>T ENSP00000446637.1:p.Val215Phe
NM_001270399.1:c.748G>T NP_001257328.1:p.Val250Phe
NM_001270400.1:c.643G>T NP_001257329.1:p.Val215Phe
NM_006009.3:c.748G>T NP_006000.2:p.Val250Phe
NM_006009.4:c.748G>T MANE Select NP_006000.2:p.Val250Phe
NM_001270399.2:c.748G>T NP_001257328.1:p.Val250Phe
NM_001270400.2:c.643G>T NP_001257329.1:p.Val215Phe