Canonical Allele Identifier: CA2575595088

Gene: GALC

Linked Data

• ClinVar Variation Id: 2736140
• ClinVar RCV Id: RCV003502010
• gnomAD v4: 14-87947855-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947858dup , CM000676.2:g.87947858dup	GRCh38
NC_000014.8:g.88414202dup , CM000676.1:g.88414202dup	GRCh37
NC_000014.7:g.87483955dup	NCBI36
NG_011853.2:g.50708dup
NG_011853.3:g.50708dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1361dup MANE Select	ENSP00000261304.2:p.Thr455HisfsTer6
ENST00000261304.6:c.1361dup	ENSP00000261304.2:p.Thr455HisfsTer6
ENST00000393568.8:c.1292dup	ENSP00000377198.4:p.Thr432HisfsTer6
ENST00000393569.6:c.1283dup	ENSP00000377199.2:p.Thr429HisfsTer6
ENST00000544807.6:c.1193dup	ENSP00000437513.2:p.Thr399HisfsTer6
ENST00000555000.5:c.728dup	ENSP00000450472.1:p.Thr244HisfsTer6
ENST00000555179.1:c.78dup
ENST00000557316.5:c.*759dup	ENSP00000452314.1:n.*759dup
NM_000153.3:c.1361dup	NP_000144.2:p.Thr455HisfsTer6
NM_001201401.1:c.1292dup	NP_001188330.1:p.Thr432HisfsTer6
NM_001201402.1:c.1283dup	NP_001188331.1:p.Thr429HisfsTer6
XM_011536618.1:c.1193dup	XP_011534920.1:p.Thr399HisfsTer6
XM_011536618.2:c.1193dup	XP_011534920.1:p.Thr399HisfsTer6
NM_000153.4:c.1361dup MANE Select	NP_000144.2:p.Thr455HisfsTer6
NM_001201401.2:c.1292dup	NP_001188330.1:p.Thr432HisfsTer6
NM_001201402.2:c.1283dup	NP_001188331.1:p.Thr429HisfsTer6