Canonical Allele Identifier: CA2625959150

Gene: GALC

Linked Data

• gnomAD v4: 14-87949829-T-TTTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949832_87949835dup , CM000676.2:g.87949832_87949835dup	GRCh38
NC_000014.8:g.88416176_88416179dup , CM000676.1:g.88416176_88416179dup	GRCh37
NC_000014.7:g.87485929_87485932dup	NCBI36
NG_011853.2:g.48731_48734dup
NG_011853.3:g.48731_48734dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1338+12_1338+15dup MANE Select	ENSP00000261304.2:n.1338+12_1338+15dup
ENST00000261304.6:c.1338+12_1338+15dup	ENSP00000261304.2:n.1338+12_1338+15dup
ENST00000393568.8:c.1269+12_1269+15dup	ENSP00000377198.4:n.1269+12_1269+15dup
ENST00000393569.6:c.1260+12_1260+15dup	ENSP00000377199.2:n.1260+12_1260+15dup
ENST00000544807.6:c.1170+12_1170+15dup	ENSP00000437513.2:n.1170+12_1170+15dup
ENST00000555000.5:c.705+12_705+15dup	ENSP00000450472.1:n.705+12_705+15dup
ENST00000555179.1:c.55+12_55+15dup
ENST00000557316.5:c.*736+12_*736+15dup	ENSP00000452314.1:n.*736+12_*736+15dup
NM_000153.3:c.1338+12_1338+15dup	NP_000144.2:n.1338+12_1338+15dup
NM_001201401.1:c.1269+12_1269+15dup	NP_001188330.1:n.1269+12_1269+15dup
NM_001201402.1:c.1260+12_1260+15dup	NP_001188331.1:n.1260+12_1260+15dup
XM_011536618.1:c.1170+12_1170+15dup	XP_011534920.1:n.1170+12_1170+15dup
XM_011536618.2:c.1170+12_1170+15dup	XP_011534920.1:n.1170+12_1170+15dup
NM_000153.4:c.1338+12_1338+15dup MANE Select	NP_000144.2:n.1338+12_1338+15dup
NM_001201401.2:c.1269+12_1269+15dup	NP_001188330.1:n.1269+12_1269+15dup
NM_001201402.2:c.1260+12_1260+15dup	NP_001188331.1:n.1260+12_1260+15dup