Canonical Allele Identifier: CA2573150294

Gene: GALC

Linked Data

• ClinVar Variation Id: 1432015
• ClinVar RCV Id: RCV001941051
• dbSNP Id: rs2139956734

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947849_87947850del , CM000676.2:g.87947849_87947850del	GRCh38
NC_000014.8:g.88414193_88414194del , CM000676.1:g.88414193_88414194del	GRCh37
NC_000014.7:g.87483946_87483947del	NCBI36
NG_011853.2:g.50714_50715del
NG_011853.3:g.50714_50715del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1367_1368del MANE Select	ENSP00000261304.2:p.Leu456GlnfsTer4
ENST00000261304.6:c.1367_1368del	ENSP00000261304.2:p.Leu456GlnfsTer4
ENST00000393568.8:c.1298_1299del	ENSP00000377198.4:p.Leu433GlnfsTer4
ENST00000393569.6:c.1289_1290del	ENSP00000377199.2:p.Leu430GlnfsTer4
ENST00000544807.6:c.1199_1200del	ENSP00000437513.2:p.Leu400GlnfsTer4
ENST00000555000.5:c.734_735del	ENSP00000450472.1:p.Leu245GlnfsTer4
ENST00000555179.1:c.84_85del
ENST00000557316.5:c.*765_*766del	ENSP00000452314.1:n.*765_*766del
NM_000153.3:c.1367_1368del	NP_000144.2:p.Leu456GlnfsTer4
NM_001201401.1:c.1298_1299del	NP_001188330.1:p.Leu433GlnfsTer4
NM_001201402.1:c.1289_1290del	NP_001188331.1:p.Leu430GlnfsTer4
XM_011536618.1:c.1199_1200del	XP_011534920.1:p.Leu400GlnfsTer4
XM_011536618.2:c.1199_1200del	XP_011534920.1:p.Leu400GlnfsTer4
NM_000153.4:c.1367_1368del MANE Select	NP_000144.2:p.Leu456GlnfsTer4
NM_001201401.2:c.1298_1299del	NP_001188330.1:p.Leu433GlnfsTer4
NM_001201402.2:c.1289_1290del	NP_001188331.1:p.Leu430GlnfsTer4