Canonical Allele Identifier: CA1139663600

Gene: GALC

Linked Data

• ClinVar Variation Id: 936833
• ClinVar RCV Id: RCV001205721
• dbSNP Id: rs1886496591

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976436dup , CM000676.2:g.87976436dup	GRCh38
NC_000014.8:g.88442780dup , CM000676.1:g.88442780dup	GRCh37
NC_000014.7:g.87512533dup	NCBI36
NG_011853.2:g.22128dup
NG_011853.3:g.22128dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.674dup MANE Select	ENSP00000261304.2:p.Ser226LysfsTer2
ENST00000261304.6:c.674dup	ENSP00000261304.2:p.Ser226LysfsTer2
ENST00000393568.8:c.605dup	ENSP00000377198.4:p.Ser203LysfsTer2
ENST00000393569.6:c.596dup	ENSP00000377199.2:p.Ser200LysfsTer2
ENST00000474294.6:n.664dup
ENST00000477716.3:n.429dup
ENST00000544807.6:c.506dup	ENSP00000437513.2:p.Ser170LysfsTer2
ENST00000554916.5:n.553dup
ENST00000555000.5:c.41dup	ENSP00000450472.1:p.Ser15LysfsTer2
ENST00000557316.5:c.*72dup	ENSP00000452314.1:n.*72dup
ENST00000622264.4:c.664dup
NM_000153.3:c.674dup	NP_000144.2:p.Ser226LysfsTer2
NM_001201401.1:c.605dup	NP_001188330.1:p.Ser203LysfsTer2
NM_001201402.1:c.596dup	NP_001188331.1:p.Ser200LysfsTer2
XM_011536618.1:c.506dup	XP_011534920.1:p.Ser170LysfsTer2
XM_011536618.2:c.506dup	XP_011534920.1:p.Ser170LysfsTer2
NM_000153.4:c.674dup MANE Select	NP_000144.2:p.Ser226LysfsTer2
NM_001201401.2:c.605dup	NP_001188330.1:p.Ser203LysfsTer2
NM_001201402.2:c.596dup	NP_001188331.1:p.Ser200LysfsTer2