Canonical Allele Identifier: CA264708280
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2060748
ClinVar RCV Id: RCV002947960
dbSNP Id: rs901252669

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976386C>T , CM000676.2:g.87976386C>T GRCh38
NC_000014.8:g.88442730C>T , CM000676.1:g.88442730C>T GRCh37
NC_000014.7:g.87512483C>T NCBI36
NG_011853.2:g.22178G>A
NG_011853.3:g.22178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.724G>A MANE Select ENSP00000261304.2:p.Glu242Lys
ENST00000261304.6:c.724G>A ENSP00000261304.2:p.Glu242Lys
ENST00000393568.8:c.655G>A ENSP00000377198.4:p.Glu219Lys
ENST00000393569.6:c.646G>A ENSP00000377199.2:p.Glu216Lys
ENST00000474294.6:n.714G>A
ENST00000477716.3:n.479G>A
ENST00000544807.6:c.556G>A ENSP00000437513.2:p.Glu186Lys
ENST00000554916.5:n.603G>A
ENST00000555000.5:c.91G>A ENSP00000450472.1:p.Glu31Lys
ENST00000557316.5:c.*122G>A ENSP00000452314.1:n.*122G>A
ENST00000622264.4:c.714G>A
NM_000153.3:c.724G>A NP_000144.2:p.Glu242Lys
NM_001201401.1:c.655G>A NP_001188330.1:p.Glu219Lys
NM_001201402.1:c.646G>A NP_001188331.1:p.Glu216Lys
XM_011536618.1:c.556G>A XP_011534920.1:p.Glu186Lys
XM_011536618.2:c.556G>A XP_011534920.1:p.Glu186Lys
NM_000153.4:c.724G>A MANE Select NP_000144.2:p.Glu242Lys
NM_001201401.2:c.655G>A NP_001188330.1:p.Glu219Lys
NM_001201402.2:c.646G>A NP_001188331.1:p.Glu216Lys