Canonical Allele Identifier: CA2625979038

Gene: GALC

Linked Data

• ClinVar Variation Id: 2696151
• ClinVar RCV Id: RCV003502838
• gnomAD v4: 14-87945745-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945746dup , CM000676.2:g.87945746dup	GRCh38
NC_000014.8:g.88412090dup , CM000676.1:g.88412090dup	GRCh37
NC_000014.7:g.87481843dup	NCBI36
NG_011853.2:g.52818dup
NG_011853.3:g.52818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1490-13dup MANE Select	ENSP00000261304.2:n.1490-13dup
ENST00000261304.6:c.1490-13dup	ENSP00000261304.2:n.1490-13dup
ENST00000393568.8:c.1421-13dup	ENSP00000377198.4:n.1421-13dup
ENST00000393569.6:c.1412-13dup	ENSP00000377199.2:n.1412-13dup
ENST00000544807.6:c.1322-13dup	ENSP00000437513.2:n.1322-13dup
ENST00000555000.5:c.857-13dup	ENSP00000450472.1:n.857-13dup
ENST00000555179.1:c.206+1982dup
ENST00000557316.5:c.*888-13dup	ENSP00000452314.1:n.*888-13dup
NM_000153.3:c.1490-13dup	NP_000144.2:n.1490-13dup
NM_001201401.1:c.1421-13dup	NP_001188330.1:n.1421-13dup
NM_001201402.1:c.1412-13dup	NP_001188331.1:n.1412-13dup
XM_011536618.1:c.1322-13dup	XP_011534920.1:n.1322-13dup
XM_011536618.2:c.1322-13dup	XP_011534920.1:n.1322-13dup
NM_000153.4:c.1490-13dup MANE Select	NP_000144.2:n.1490-13dup
NM_001201401.2:c.1421-13dup	NP_001188330.1:n.1421-13dup
NM_001201402.2:c.1412-13dup	NP_001188331.1:n.1412-13dup