Canonical Allele Identifier: CA709662850

Gene: GALC

Linked Data

• dbSNP Id: rs1340404643
• gnomAD v3: 14-87968195-AC-A
• gnomAD v4: 14-87968195-AC-A
• MyVariant Identifiers: chr14:g.88434540del (hg19) ; chr14:g.87968196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968196del , CM000676.2:g.87968196del	GRCh38
NC_000014.8:g.88434540del , CM000676.1:g.88434540del	GRCh37
NC_000014.7:g.87504293del	NCBI36
NG_011853.2:g.30368del
NG_011853.3:g.30368del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.908+139del MANE Select	ENSP00000261304.2:n.908+139del
ENST00000261304.6:c.908+139del	ENSP00000261304.2:n.908+139del
ENST00000393568.8:c.839+139del	ENSP00000377198.4:n.839+139del
ENST00000393569.6:c.830+139del	ENSP00000377199.2:n.830+139del
ENST00000474294.6:n.898+139del
ENST00000544807.6:c.740+139del	ENSP00000437513.2:n.740+139del
ENST00000555000.5:c.275+139del	ENSP00000450472.1:n.275+139del
ENST00000557316.5:c.*306+139del	ENSP00000452314.1:n.*306+139del
ENST00000622264.4:c.898+139del
NM_000153.3:c.908+139del	NP_000144.2:n.908+139del
NM_001201401.1:c.839+139del	NP_001188330.1:n.839+139del
NM_001201402.1:c.830+139del	NP_001188331.1:n.830+139del
XM_011536618.1:c.740+139del	XP_011534920.1:n.740+139del
XM_011536618.2:c.740+139del	XP_011534920.1:n.740+139del
NM_000153.4:c.908+139del MANE Select	NP_000144.2:n.908+139del
NM_001201401.2:c.839+139del	NP_001188330.1:n.839+139del
NM_001201402.2:c.830+139del	NP_001188331.1:n.830+139del