Canonical Allele Identifier: CA384636262
Gene: TUBA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 426640
ClinVar RCV Id: RCV000488951 RCV000767445
dbSNP Id: rs1085307724
MyVariant Identifiers: chr12:g.49579073G>A (hg19) chr12:g.49185290G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49185290G>A , CM000674.2:g.49185290G>A GRCh38
NC_000012.11:g.49579073G>A , CM000674.1:g.49579073G>A GRCh37
NC_000012.10:g.47865340G>A NCBI36
NG_008966.1:g.8789C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.1076C>T MANE Select ENSP00000301071.7:p.Pro359Leu
ENST00000547939.6:c.971C>T ENSP00000450268.2:p.Pro324Leu
ENST00000550767.6:c.971C>T ENSP00000446637.1:p.Pro324Leu
ENST00000550811.2:n.2109C>T
ENST00000552924.2:c.971C>T ENSP00000448725.2:p.Pro324Leu
ENST00000679733.1:c.*532C>T ENSP00000505459.1:n.*532C>T
ENST00000295766.9:c.1076C>T ENSP00000439020.2:p.Pro359Leu
ENST00000301071.11:c.1076C>T ENSP00000301071.7:p.Pro359Leu
ENST00000550767.5:c.971C>T ENSP00000446637.1:p.Pro324Leu
NM_001270399.1:c.1076C>T NP_001257328.1:p.Pro359Leu
NM_001270400.1:c.971C>T NP_001257329.1:p.Pro324Leu
NM_006009.3:c.1076C>T NP_006000.2:p.Pro359Leu
NM_006009.4:c.1076C>T MANE Select NP_006000.2:p.Pro359Leu
NM_001270399.2:c.1076C>T NP_001257328.1:p.Pro359Leu
NM_001270400.2:c.971C>T NP_001257329.1:p.Pro324Leu
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