Canonical Allele Identifier: CA213166
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 7077
ClinVar RCV Id: RCV000007493 RCV000255074 RCV000767410 RCV001291201
dbSNP Id: rs137853050
MyVariant Identifiers: chr12:g.49578884C>T (hg19) chr12:g.49185101C>T (hg38)
PubMed: PMID:18728072 PMID:18954413 PMID:20466733 PMID:27010057
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185101C>T , CM000674.2:g.49185101C>T GRCh38
NC_000012.11:g.49578884C>T , CM000674.1:g.49578884C>T GRCh37
NC_000012.10:g.47865151C>T NCBI36
NG_008966.1:g.8978G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.1265G>A MANE Select ENSP00000301071.7:p.Arg422His
ENST00000547939.6:c.1160G>A ENSP00000450268.2:p.Arg387His
ENST00000550767.6:c.1160G>A ENSP00000446637.1:p.Arg387His
ENST00000550811.2:n.2298G>A
ENST00000552924.2:c.1160G>A ENSP00000448725.2:p.Arg387His
ENST00000679733.1:c.*721G>A ENSP00000505459.1:n.*721G>A
ENST00000295766.9:c.1265G>A ENSP00000439020.2:p.Arg422His
ENST00000301071.11:c.1265G>A ENSP00000301071.7:p.Arg422His
ENST00000550767.5:c.1160G>A ENSP00000446637.1:p.Arg387His
NM_001270399.1:c.1265G>A NP_001257328.1:p.Arg422His
NM_001270400.1:c.1160G>A NP_001257329.1:p.Arg387His
NM_006009.3:c.1265G>A NP_006000.2:p.Arg422His
NM_006009.4:c.1265G>A MANE Select NP_006000.2:p.Arg422His
NM_001270399.2:c.1265G>A NP_001257328.1:p.Arg422His
NM_001270400.2:c.1160G>A NP_001257329.1:p.Arg387His
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