Canonical Allele Identifier: CA2153385644

Gene: GALC

Linked Data

• ClinVar Variation Id: 1073890
• ClinVar RCV Id: RCV001387029
• dbSNP Id: rs1886886241

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984478del , CM000676.2:g.87984478del	GRCh38
NC_000014.8:g.88450822del , CM000676.1:g.88450822del	GRCh37
NC_000014.7:g.87520575del	NCBI36
NG_011853.2:g.14086del
NG_011853.3:g.14086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.498del MANE Select	ENSP00000261304.2:p.Asn167IlefsTer4
ENST00000261304.6:c.498del	ENSP00000261304.2:p.Asn167IlefsTer4
ENST00000393568.8:c.429del	ENSP00000377198.4:p.Asn144IlefsTer4
ENST00000393569.6:c.420del	ENSP00000377199.2:p.Asn141IlefsTer4
ENST00000474294.6:n.488del
ENST00000544807.6:c.330del	ENSP00000437513.2:p.Asn111IlefsTer4
ENST00000554372.5:c.*247del	ENSP00000451884.1:n.*247del
ENST00000554916.5:n.377del
ENST00000556261.5:n.199del
ENST00000556879.5:c.558del	ENSP00000452208.1:n.558del
ENST00000557316.5:c.498del	ENSP00000452314.1:p.Asn167IlefsTer4
ENST00000622264.4:c.488del
NM_000153.3:c.498del	NP_000144.2:p.Asn167IlefsTer4
NM_001201401.1:c.429del	NP_001188330.1:p.Asn144IlefsTer4
NM_001201402.1:c.420del	NP_001188331.1:p.Asn141IlefsTer4
XM_011536618.1:c.330del	XP_011534920.1:p.Asn111IlefsTer4
XM_011536618.2:c.330del	XP_011534920.1:p.Asn111IlefsTer4
NM_000153.4:c.498del MANE Select	NP_000144.2:p.Asn167IlefsTer4
NM_001201401.2:c.429del	NP_001188330.1:p.Asn144IlefsTer4
NM_001201402.2:c.420del	NP_001188331.1:p.Asn141IlefsTer4