Canonical Allele Identifier: CA2573053947

Gene: GALC

Linked Data

• ClinVar Variation Id: 1322975
• ClinVar RCV Id: RCV001785864
• dbSNP Id: rs2139951585

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945694del , CM000676.2:g.87945694del	GRCh38
NC_000014.8:g.88412038del , CM000676.1:g.88412038del	GRCh37
NC_000014.7:g.87481791del	NCBI36
NG_011853.2:g.52872del
NG_011853.3:g.52872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1531del MANE Select	ENSP00000261304.2:p.Thr511LeufsTer?
ENST00000261304.6:c.1531del	ENSP00000261304.2:p.Thr511LeufsTer?
ENST00000393568.8:c.1462del	ENSP00000377198.4:p.Thr488LeufsTer?
ENST00000393569.6:c.1453del	ENSP00000377199.2:p.Thr485LeufsTer?
ENST00000544807.6:c.1363del	ENSP00000437513.2:p.Thr455LeufsTer?
ENST00000555000.5:c.898del	ENSP00000450472.1:p.Thr300LeufsTer?
ENST00000555179.1:c.206+2036del
ENST00000557316.5:c.*929del	ENSP00000452314.1:n.*929del
NM_000153.3:c.1531del	NP_000144.2:p.Thr511LeufsTer?
NM_001201401.1:c.1462del	NP_001188330.1:p.Thr488LeufsTer?
NM_001201402.1:c.1453del	NP_001188331.1:p.Thr485LeufsTer?
XM_011536618.1:c.1363del	XP_011534920.1:p.Thr455LeufsTer?
XM_011536618.2:c.1363del	XP_011534920.1:p.Thr455LeufsTer?
NM_000153.4:c.1531del MANE Select	NP_000144.2:p.Thr511LeufsTer?
NM_001201401.2:c.1462del	NP_001188330.1:p.Thr488LeufsTer?
NM_001201402.2:c.1453del	NP_001188331.1:p.Thr485LeufsTer?