Canonical Allele Identifier: CA346601382
Gene: SPAST HGNC NCBI

Linked Data

dbSNP Id: rs1676394003
gnomAD v3: 2-32063946-G-A
gnomAD v4: 2-32063946-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32063946G>A , CM000664.2:g.32063946G>A GRCh38
NC_000002.11:g.32289015G>A , CM000664.1:g.32289015G>A GRCh37
NC_000002.10:g.32142519G>A NCBI36
NG_008730.1:g.5336G>A , LRG_714:g.5336G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.115G>A ENSP00000515816.1:p.Ala39Thr
ENST00000315285.9:c.115G>A MANE Select ENSP00000320885.3:p.Ala39Thr
ENST00000621856.2:c.115G>A ENSP00000482496.2:p.Ala39Thr
ENST00000642455.1:c.115G>A ENSP00000493827.1:p.Ala39Thr
ENST00000646571.1:c.115G>A ENSP00000495015.1:p.Ala39Thr
ENST00000315285.7:c.115G>A ENSP00000320885.3:p.Ala39Thr
ENST00000345662.5:c.115G>A ENSP00000340817.1:p.Ala39Thr
ENST00000615843.4:c.115G>A ENSP00000480893.1:p.Ala39Thr
NM_014946.3:c.115G>A , LRG_714t1:c.115G>A NP_055761.2:p.Ala39Thr
NM_199436.1:c.115G>A NP_955468.1:p.Ala39Thr
XM_005264516.3:c.115G>A XP_005264573.1:p.Ala39Thr
XM_011533067.1:c.115G>A XP_011531369.1:p.Ala39Thr
NM_001363823.1:c.115G>A NP_001350752.1:p.Ala39Thr
NM_001363875.1:c.115G>A NP_001350804.1:p.Ala39Thr
XM_005264516.5:c.115G>A XP_005264573.1:p.Ala39Thr
XM_011533067.2:c.115G>A XP_011531369.1:p.Ala39Thr
XM_017004778.2:c.115G>A XP_016860267.1:p.Ala39Thr
NM_001363823.2:c.115G>A NP_001350752.1:p.Ala39Thr
NM_001363875.2:c.115G>A NP_001350804.1:p.Ala39Thr
NM_001377959.1:c.115G>A NP_001364888.1:p.Ala39Thr
NM_014946.4:c.115G>A MANE Select NP_055761.2:p.Ala39Thr
NM_199436.2:c.115G>A NP_955468.1:p.Ala39Thr