Canonical Allele Identifier: CA213156
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 7072
ClinVar RCV Id: RCV000007488 RCV000767405
dbSNP Id: rs137853045
MyVariant Identifiers: chr12:g.49579587T>G (hg19) chr12:g.49185804T>G (hg38)
PubMed: PMID:17584854 PMID:20603323
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185804T>G , CM000674.2:g.49185804T>G GRCh38
NC_000012.11:g.49579587T>G , CM000674.1:g.49579587T>G GRCh37
NC_000012.10:g.47865854T>G NCBI36
NG_008966.1:g.8275A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.562A>C MANE Select ENSP00000301071.7:p.Ile188Leu
ENST00000547939.6:c.457A>C ENSP00000450268.2:p.Ile153Leu
ENST00000550767.6:c.457A>C ENSP00000446637.1:p.Ile153Leu
ENST00000550811.2:n.1595A>C
ENST00000552924.2:c.457A>C ENSP00000448725.2:p.Ile153Leu
ENST00000679733.1:c.*18A>C ENSP00000505459.1:n.*18A>C
ENST00000295766.9:c.562A>C ENSP00000439020.2:p.Ile188Leu
ENST00000301071.11:c.562A>C ENSP00000301071.7:p.Ile188Leu
ENST00000546918.1:c.*18A>C ENSP00000446613.1:n.*18A>C
ENST00000547939.5:c.457A>C ENSP00000450268.1:p.Ile153Leu
ENST00000550767.5:c.457A>C ENSP00000446637.1:p.Ile153Leu
NM_001270399.1:c.562A>C NP_001257328.1:p.Ile188Leu
NM_001270400.1:c.457A>C NP_001257329.1:p.Ile153Leu
NM_006009.3:c.562A>C NP_006000.2:p.Ile188Leu
NM_006009.4:c.562A>C MANE Select NP_006000.2:p.Ile188Leu
NM_001270399.2:c.562A>C NP_001257328.1:p.Ile188Leu
NM_001270400.2:c.457A>C NP_001257329.1:p.Ile153Leu
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