Canonical Allele Identifier: CA1139663598

Gene: GALC

Linked Data

• ClinVar Variation Id: 872578
• ClinVar RCV Id: RCV001093134
• dbSNP Id: rs1886008578

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965595del , CM000676.2:g.87965595del	GRCh38
NC_000014.8:g.88431939del , CM000676.1:g.88431939del	GRCh37
NC_000014.7:g.87501692del	NCBI36
NG_011853.2:g.32969del
NG_011853.3:g.32969del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.943del MANE Select	ENSP00000261304.2:p.Glu315AsnfsTer10
ENST00000261304.6:c.943del	ENSP00000261304.2:p.Glu315AsnfsTer10
ENST00000393568.8:c.874del	ENSP00000377198.4:p.Glu292AsnfsTer10
ENST00000393569.6:c.865del	ENSP00000377199.2:p.Glu289AsnfsTer10
ENST00000474294.6:n.933del
ENST00000544807.6:c.775del	ENSP00000437513.2:p.Glu259AsnfsTer10
ENST00000555000.5:c.310del	ENSP00000450472.1:p.Glu104AsnfsTer10
ENST00000557316.5:c.*341del	ENSP00000452314.1:n.*341del
ENST00000557520.1:n.29del
ENST00000622264.4:c.933del
NM_000153.3:c.943del	NP_000144.2:p.Glu315AsnfsTer10
NM_001201401.1:c.874del	NP_001188330.1:p.Glu292AsnfsTer10
NM_001201402.1:c.865del	NP_001188331.1:p.Glu289AsnfsTer10
XM_011536618.1:c.775del	XP_011534920.1:p.Glu259AsnfsTer10
XM_011536618.2:c.775del	XP_011534920.1:p.Glu259AsnfsTer10
NM_000153.4:c.943del MANE Select	NP_000144.2:p.Glu315AsnfsTer10
NM_001201401.2:c.874del	NP_001188330.1:p.Glu292AsnfsTer10
NM_001201402.2:c.865del	NP_001188331.1:p.Glu289AsnfsTer10