Canonical Allele Identifier: CA2625960277

Gene: GALC

Linked Data

• gnomAD v4: 14-87976250-G-GCTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976253_87976256dup , CM000676.2:g.87976253_87976256dup	GRCh38
NC_000014.8:g.88442597_88442600dup , CM000676.1:g.88442597_88442600dup	GRCh37
NC_000014.7:g.87512350_87512353dup	NCBI36
NG_011853.2:g.22310_22313dup
NG_011853.3:g.22310_22313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+104_752+107dup MANE Select	ENSP00000261304.2:n.752+104_752+107dup
ENST00000261304.6:c.752+104_752+107dup	ENSP00000261304.2:n.752+104_752+107dup
ENST00000393568.8:c.683+104_683+107dup	ENSP00000377198.4:n.683+104_683+107dup
ENST00000393569.6:c.674+104_674+107dup	ENSP00000377199.2:n.674+104_674+107dup
ENST00000474294.6:n.742+104_742+107dup
ENST00000477716.3:n.507+104_507+107dup
ENST00000544807.6:c.584+104_584+107dup	ENSP00000437513.2:n.584+104_584+107dup
ENST00000555000.5:c.119+104_119+107dup	ENSP00000450472.1:n.119+104_119+107dup
ENST00000557316.5:c.*150+104_*150+107dup	ENSP00000452314.1:n.*150+104_*150+107dup
ENST00000622264.4:c.742+104_742+107dup
NM_000153.3:c.752+104_752+107dup	NP_000144.2:n.752+104_752+107dup
NM_001201401.1:c.683+104_683+107dup	NP_001188330.1:n.683+104_683+107dup
NM_001201402.1:c.674+104_674+107dup	NP_001188331.1:n.674+104_674+107dup
XM_011536618.1:c.584+104_584+107dup	XP_011534920.1:n.584+104_584+107dup
XM_011536618.2:c.584+104_584+107dup	XP_011534920.1:n.584+104_584+107dup
NM_000153.4:c.752+104_752+107dup MANE Select	NP_000144.2:n.752+104_752+107dup
NM_001201401.2:c.683+104_683+107dup	NP_001188330.1:n.683+104_683+107dup
NM_001201402.2:c.674+104_674+107dup	NP_001188331.1:n.674+104_674+107dup