Canonical Allele Identifier: CA390746695

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949844C>A , CM000676.2:g.87949844C>A	GRCh38
NC_000014.8:g.88416188C>A , CM000676.1:g.88416188C>A	GRCh37
NC_000014.7:g.87485941C>A	NCBI36
NG_011853.2:g.48720G>T
NG_011853.3:g.48720G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1338+1G>T MANE Select	NP_000144.2:n.1338+1G>T
ENST00000261304.7:c.1338+1G>T MANE Select	ENSP00000261304.2:n.1338+1G>T
NM_000153.3:c.1338+1G>T	NP_000144.2:n.1338+1G>T
NM_001201401.1:c.1269+1G>T	NP_001188330.1:n.1269+1G>T
NM_001201401.2:c.1269+1G>T	NP_001188330.1:n.1269+1G>T
NM_001201402.1:c.1260+1G>T	NP_001188331.1:n.1260+1G>T
NM_001201402.2:c.1260+1G>T	NP_001188331.1:n.1260+1G>T
ENST00000261304.6:c.1338+1G>T	ENSP00000261304.2:n.1338+1G>T
ENST00000393568.8:c.1269+1G>T	ENSP00000377198.4:n.1269+1G>T
ENST00000393569.6:c.1260+1G>T	ENSP00000377199.2:n.1260+1G>T
ENST00000544807.6:c.1170+1G>T	ENSP00000437513.2:n.1170+1G>T
ENST00000555000.5:c.705+1G>T	ENSP00000450472.1:n.705+1G>T
ENST00000555179.1:c.55+1G>T
ENST00000557316.5:c.*736+1G>T	ENSP00000452314.1:n.*736+1G>T
XM_011536618.1:c.1170+1G>T	XP_011534920.1:n.1170+1G>T
XM_011536618.2:c.1170+1G>T	XP_011534920.1:n.1170+1G>T